{"id":2187,"date":"2026-04-22T21:56:28","date_gmt":"2026-04-22T19:56:28","guid":{"rendered":"https:\/\/kleefstrasyndrome.com\/?p=2187"},"modified":"2026-08-21T00:35:34","modified_gmt":"2026-08-20T22:35:34","slug":"kleefstra-rwanda-first-molecular-diagnosis","status":"publish","type":"post","link":"https:\/\/kleefstrasyndrome.com\/el\/kleefstra-rwanda-first-molecular-diagnosis\/","title":{"rendered":"\u0397 \u03c0\u03c1\u03ce\u03c4\u03b7 \u03bc\u03bf\u03c1\u03b9\u03b1\u03ba\u03ac \u03b5\u03c0\u03b9\u03b2\u03b5\u03b2\u03b1\u03b9\u03c9\u03bc\u03ad\u03bd\u03b7 \u03b4\u03b9\u03ac\u03b3\u03bd\u03c9\u03c3\u03b7 \u03c3\u03c5\u03bd\u03b4\u03c1\u03cc\u03bc\u03bf\u03c5 Kleefstra \u03c3\u03c4\u03b7 \u03a1\u03bf\u03c5\u03ac\u03bd\u03c4\u03b1"},"content":{"rendered":"\n<p class=\"wp-block-paragraph\">\u0388\u03bd\u03b1 \u03c0\u03b1\u03b9\u03b4\u03af 15 \u03bc\u03b7\u03bd\u03ce\u03bd \u03bc\u03b5 \u03b1\u03bd\u03b1\u03c0\u03c4\u03c5\u03be\u03b9\u03b1\u03ba\u03ae \u03ba\u03b1\u03b8\u03c5\u03c3\u03c4\u03ad\u03c1\u03b7\u03c3\u03b7 \u03ba\u03b1\u03b9 \u03c5\u03c0\u03bf\u03c4\u03bf\u03bd\u03af\u03b1 \u03b3\u03af\u03bd\u03b5\u03c4\u03b1\u03b9 \u03c4\u03bf \u03c0\u03c1\u03ce\u03c4\u03bf \u03ac\u03c4\u03bf\u03bc\u03bf \u03c3\u03c4\u03b7 \u03a1\u03bf\u03c5\u03ac\u03bd\u03c4\u03b1 \u03c3\u03c4\u03bf \u03bf\u03c0\u03bf\u03af\u03bf \u03c4\u03bf \u03c3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03bf Kleefstra \u03b5\u03c0\u03b9\u03b2\u03b5\u03b2\u03b1\u03b9\u03ce\u03bd\u03b5\u03c4\u03b1\u03b9 \u03bc\u03bf\u03c1\u03b9\u03b1\u03ba\u03ac. \u0391\u03c0\u03cc \u03bc\u03cc\u03bd\u03bf \u03c4\u03bf\u03c5, \u03ad\u03bd\u03b1 \u03bc\u03b5\u03bc\u03bf\u03bd\u03c9\u03bc\u03ad\u03bd\u03bf \u03c0\u03b5\u03c1\u03b9\u03c3\u03c4\u03b1\u03c4\u03b9\u03ba\u03cc \u03b4\u03b5\u03bd \u03b1\u03bb\u03bb\u03ac\u03b6\u03b5\u03b9 \u03cc\u03c3\u03b1 \u03b3\u03bd\u03c9\u03c1\u03af\u03b6\u03bf\u03c5\u03bc\u03b5 \u03b3\u03b9\u03b1 \u03c4\u03b7 \u03c6\u03c5\u03c3\u03b9\u03ba\u03ae \u03b9\u03c3\u03c4\u03bf\u03c1\u03af\u03b1 \u03ae \u03c4\u03b7 \u03b8\u03b5\u03c1\u03b1\u03c0\u03b5\u03af\u03b1 \u03c4\u03bf\u03c5 \u03c3\u03c5\u03bd\u03b4\u03c1\u03cc\u03bc\u03bf\u03c5. \u0397 \u03c3\u03b7\u03bc\u03b1\u03c3\u03af\u03b1 \u03b1\u03c5\u03c4\u03ae\u03c2 \u03c4\u03b7\u03c2 \u03b4\u03b7\u03bc\u03bf\u03c3\u03af\u03b5\u03c5\u03c3\u03b7\u03c2 \u03b2\u03c1\u03af\u03c3\u03ba\u03b5\u03c4\u03b1\u03b9 \u03b1\u03bb\u03bb\u03bf\u03cd, \u03ba\u03b1\u03b8\u03ce\u03c2 \u03b1\u03bd\u03b1\u03b4\u03b5\u03b9\u03ba\u03bd\u03cd\u03b5\u03b9 \u03c4\u03bf \u03c7\u03ac\u03c3\u03bc\u03b1 \u03c0\u03bf\u03c5 \u03b5\u03be\u03b1\u03ba\u03bf\u03bb\u03bf\u03c5\u03b8\u03b5\u03af \u03bd\u03b1 \u03c5\u03c0\u03ac\u03c1\u03c7\u03b5\u03b9 \u03c3\u03c4\u03b7\u03bd \u03c0\u03c1\u03cc\u03c3\u03b2\u03b1\u03c3\u03b7 \u03c3\u03c4\u03b7 \u03b3\u03b5\u03bd\u03b5\u03c4\u03b9\u03ba\u03ae \u03b4\u03b9\u03ac\u03b3\u03bd\u03c9\u03c3\u03b7 \u03ba\u03b1\u03b9 \u03c5\u03c0\u03b5\u03bd\u03b8\u03c5\u03bc\u03af\u03b6\u03b5\u03b9 \u03cc\u03c4\u03b9 \u03b7 \u03b3\u03b5\u03c9\u03b3\u03c1\u03b1\u03c6\u03b9\u03ba\u03ae \u03ba\u03b1\u03c4\u03b1\u03bd\u03bf\u03bc\u03ae \u03c4\u03c9\u03bd \u03ba\u03b1\u03c4\u03b1\u03b3\u03b5\u03b3\u03c1\u03b1\u03bc\u03bc\u03ad\u03bd\u03c9\u03bd \u03c0\u03b5\u03c1\u03b9\u03c3\u03c4\u03b1\u03c4\u03b9\u03ba\u03ce\u03bd \u03bc\u03b9\u03b1\u03c2 \u03c3\u03c0\u03ac\u03bd\u03b9\u03b1\u03c2 \u03c0\u03ac\u03b8\u03b7\u03c3\u03b7\u03c2 \u03b4\u03b5\u03bd \u03b5\u03af\u03bd\u03b1\u03b9 \u03b1\u03c0\u03b1\u03c1\u03b1\u03af\u03c4\u03b7\u03c4\u03b1 \u03b7 \u03c0\u03c1\u03b1\u03b3\u03bc\u03b1\u03c4\u03b9\u03ba\u03ae \u03b3\u03b5\u03c9\u03b3\u03c1\u03b1\u03c6\u03b9\u03ba\u03ae \u03ba\u03b1\u03c4\u03b1\u03bd\u03bf\u03bc\u03ae \u03c4\u03b7\u03c2.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u0397 \u03b5\u03c1\u03b3\u03b1\u03c3\u03af\u03b1 \u03bc\u03b5 \u03c4\u03af\u03c4\u03bb\u03bf <em>The First Case of Kleefstra Syndrome in a Rwandan Patient with Global Developmental Delay<\/em> \u03b4\u03b7\u03bc\u03bf\u03c3\u03b9\u03b5\u03cd\u03b8\u03b7\u03ba\u03b5 \u03c3\u03c4\u03b9\u03c2 7 \u0391\u03c0\u03c1\u03b9\u03bb\u03af\u03bf\u03c5 2026 \u03c3\u03c4\u03bf \u03b5\u03c0\u03b9\u03c3\u03c4\u03b7\u03bc\u03bf\u03bd\u03b9\u03ba\u03cc \u03c0\u03b5\u03c1\u03b9\u03bf\u03b4\u03b9\u03ba\u03cc <em>Genes<\/em>. \u03a0\u03c1\u03cc\u03ba\u03b5\u03b9\u03c4\u03b1\u03b9 \u03b3\u03b9\u03b1 \u03c3\u03c5\u03bd\u03b5\u03c1\u03b3\u03b1\u03c3\u03af\u03b1 \u03b5\u03c1\u03b5\u03c5\u03bd\u03b7\u03c4\u03ce\u03bd \u03ba\u03b1\u03b9 \u03ba\u03bb\u03b9\u03bd\u03b9\u03ba\u03ce\u03bd \u03b1\u03c0\u03cc \u03c4\u03bf <strong>University of Rwanda<\/strong>, \u03c4\u03bf University Teaching Hospital of Kigali \u03ba\u03b1\u03b9 \u03c4\u03bf <strong>University of Li\u00e8ge<\/strong> \u03c3\u03c4\u03bf \u0392\u03ad\u03bb\u03b3\u03b9\u03bf. \u03a3\u03cd\u03bc\u03c6\u03c9\u03bd\u03b1 \u03bc\u03b5 \u03c4\u03bf\u03c5\u03c2 \u03c3\u03c5\u03b3\u03b3\u03c1\u03b1\u03c6\u03b5\u03af\u03c2, \u03c0\u03c1\u03cc\u03ba\u03b5\u03b9\u03c4\u03b1\u03b9 \u03b3\u03b9\u03b1 \u03c4\u03b7\u03bd \u03c0\u03c1\u03ce\u03c4\u03b7 \u03bc\u03bf\u03c1\u03b9\u03b1\u03ba\u03ac \u03b5\u03c0\u03b9\u03b2\u03b5\u03b2\u03b1\u03b9\u03c9\u03bc\u03ad\u03bd\u03b7 \u03c0\u03b5\u03c1\u03af\u03c0\u03c4\u03c9\u03c3\u03b7 \u03c3\u03c5\u03bd\u03b4\u03c1\u03cc\u03bc\u03bf\u03c5 Kleefstra \u03c3\u03c4\u03b7 \u03a1\u03bf\u03c5\u03ac\u03bd\u03c4\u03b1 \u03ba\u03b1\u03b9, \u03c3\u03cd\u03bc\u03c6\u03c9\u03bd\u03b1 \u03bc\u03b5 \u03c4\u03b7\u03bd \u03b1\u03bd\u03b1\u03c3\u03ba\u03cc\u03c0\u03b7\u03c3\u03ae \u03c4\u03bf\u03c5\u03c2, \u03b4\u03b5\u03bd \u03b5\u03af\u03c7\u03b5 \u03c0\u03c1\u03bf\u03b7\u03b3\u03bf\u03c5\u03bc\u03ad\u03bd\u03c9\u03c2 \u03b4\u03b7\u03bc\u03bf\u03c3\u03b9\u03b5\u03c5\u03b8\u03b5\u03af \u03b1\u03bd\u03c4\u03af\u03c3\u03c4\u03bf\u03b9\u03c7\u03b7 \u03b5\u03c0\u03b9\u03b2\u03b5\u03b2\u03b1\u03b9\u03c9\u03bc\u03ad\u03bd\u03b7 \u03c0\u03b5\u03c1\u03af\u03c0\u03c4\u03c9\u03c3\u03b7 \u03b1\u03c0\u03cc \u03c4\u03b7\u03bd \u0391\u03bd\u03b1\u03c4\u03bf\u03bb\u03b9\u03ba\u03ae \u0391\u03c6\u03c1\u03b9\u03ba\u03ae.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u0391\u03c0\u03cc \u03c4\u03b7\u03bd \u03b1\u03bd\u03b1\u03c0\u03c4\u03c5\u03be\u03b9\u03b1\u03ba\u03ae \u03ba\u03b1\u03b8\u03c5\u03c3\u03c4\u03ad\u03c1\u03b7\u03c3\u03b7 \u03c3\u03c4\u03b7 \u03b3\u03b5\u03bd\u03b5\u03c4\u03b9\u03ba\u03ae \u03b4\u03b9\u03ac\u03b3\u03bd\u03c9\u03c3\u03b7<\/h2>\n\n\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-8f761849 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:66.66%\">\n<p class=\"wp-block-paragraph\">\u03a4\u03bf \u03c0\u03b1\u03b9\u03b4\u03af \u03c0\u03b1\u03c1\u03b1\u03c0\u03ad\u03bc\u03c6\u03b8\u03b7\u03ba\u03b5 \u03c3\u03b5 \u03b3\u03b5\u03bd\u03b5\u03c4\u03b9\u03ba\u03cc \u03b9\u03b1\u03c4\u03c1\u03b5\u03af\u03bf \u03c4\u03bf\u03c5 University Teaching Hospital of Kigali \u03c3\u03b5 \u03b7\u03bb\u03b9\u03ba\u03af\u03b1 15 \u03bc\u03b7\u03bd\u03ce\u03bd \u03bb\u03cc\u03b3\u03c9 <strong>\u03b3\u03b5\u03bd\u03b9\u03ba\u03b5\u03c5\u03bc\u03ad\u03bd\u03b7\u03c2 \u03b1\u03bd\u03b1\u03c0\u03c4\u03c5\u03be\u03b9\u03b1\u03ba\u03ae\u03c2 \u03ba\u03b1\u03b8\u03c5\u03c3\u03c4\u03ad\u03c1\u03b7\u03c3\u03b7\u03c2 \u03ba\u03b1\u03b9 \u03b9\u03b4\u03b9\u03b1\u03af\u03c4\u03b5\u03c1\u03c9\u03bd \u03bc\u03bf\u03c1\u03c6\u03bf\u03bb\u03bf\u03b3\u03b9\u03ba\u03ce\u03bd \u03c7\u03b1\u03c1\u03b1\u03ba\u03c4\u03b7\u03c1\u03b9\u03c3\u03c4\u03b9\u03ba\u03ce\u03bd<\/strong>. \u0389\u03c4\u03b1\u03bd \u03c4\u03bf \u03c4\u03c1\u03af\u03c4\u03bf \u03c0\u03b1\u03b9\u03b4\u03af \u03c5\u03b3\u03b9\u03ce\u03bd, \u03bc\u03b7 \u03c3\u03c5\u03b3\u03b3\u03b5\u03bd\u03ce\u03bd \u03b3\u03bf\u03bd\u03ad\u03c9\u03bd \u03ba\u03b1\u03b9 \u03b4\u03b5\u03bd \u03c5\u03c0\u03ae\u03c1\u03c7\u03b5 \u03b3\u03bd\u03c9\u03c3\u03c4\u03cc \u03bf\u03b9\u03ba\u03bf\u03b3\u03b5\u03bd\u03b5\u03b9\u03b1\u03ba\u03cc \u03b9\u03c3\u03c4\u03bf\u03c1\u03b9\u03ba\u03cc \u03bd\u03bf\u03b7\u03c4\u03b9\u03ba\u03ae\u03c2 \u03b1\u03bd\u03b1\u03c0\u03b7\u03c1\u03af\u03b1\u03c2 \u03ae \u03c3\u03c5\u03b3\u03b3\u03b5\u03bd\u03ce\u03bd \u03b1\u03bd\u03c9\u03bc\u03b1\u03bb\u03b9\u03ce\u03bd.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u0389\u03b4\u03b7 \u03b1\u03c0\u03cc \u03c4\u03b7 \u03bd\u03b5\u03bf\u03b3\u03bd\u03b9\u03ba\u03ae \u03c0\u03b5\u03c1\u03af\u03bf\u03b4\u03bf \u03b5\u03af\u03c7\u03b5 \u03b5\u03bc\u03c6\u03b1\u03bd\u03b9\u03c3\u03c4\u03b5\u03af <strong>\u03c5\u03c0\u03bf\u03c4\u03bf\u03bd\u03af\u03b1<\/strong>, \u03ad\u03bd\u03b1 \u03b1\u03c0\u03cc \u03c4\u03b1 \u03c3\u03c5\u03c7\u03bd\u03ac \u03c0\u03c1\u03ce\u03b9\u03bc\u03b1 \u03c7\u03b1\u03c1\u03b1\u03ba\u03c4\u03b7\u03c1\u03b9\u03c3\u03c4\u03b9\u03ba\u03ac \u03c4\u03bf\u03c5 \u03c3\u03c5\u03bd\u03b4\u03c1\u03cc\u03bc\u03bf\u03c5 Kleefstra. \u03a3\u03c4\u03bf\u03c5\u03c2 15 \u03bc\u03ae\u03bd\u03b5\u03c2 \u03c0\u03b1\u03c1\u03bf\u03c5\u03c3\u03af\u03b1\u03b6\u03b5 \u03ad\u03bd\u03c4\u03bf\u03bd\u03bf \u03c7\u03b1\u03bc\u03b7\u03bb\u03cc \u03b1\u03bd\u03ac\u03c3\u03c4\u03b7\u03bc\u03b1, \u03b5\u03bd\u03ce \u03c4\u03bf \u03b2\u03ac\u03c1\u03bf\u03c2 \u03ba\u03b1\u03b9 \u03b7 \u03c0\u03b5\u03c1\u03af\u03bc\u03b5\u03c4\u03c1\u03bf\u03c2 \u03ba\u03b5\u03c6\u03b1\u03bb\u03ae\u03c2 \u03b2\u03c1\u03af\u03c3\u03ba\u03bf\u03bd\u03c4\u03b1\u03bd \u03bc\u03ad\u03c3\u03b1 \u03c3\u03c4\u03b9\u03c2 \u03b1\u03bd\u03c4\u03af\u03c3\u03c4\u03bf\u03b9\u03c7\u03b5\u03c2 \u03ba\u03b1\u03bc\u03c0\u03cd\u03bb\u03b5\u03c2 \u03b1\u03bd\u03ac\u03c0\u03c4\u03c5\u03be\u03b7\u03c2. \u039f \u03ba\u03b1\u03c1\u03b4\u03b9\u03bf\u03bb\u03bf\u03b3\u03b9\u03ba\u03cc\u03c2 \u03ad\u03bb\u03b5\u03b3\u03c7\u03bf\u03c2 \u03bc\u03b5 \u03c5\u03c0\u03b5\u03c1\u03b7\u03c7\u03bf\u03b3\u03c1\u03ac\u03c6\u03b7\u03bc\u03b1 \u03ba\u03b1\u03c1\u03b4\u03b9\u03ac\u03c2 \u03ae\u03c4\u03b1\u03bd \u03c6\u03c5\u03c3\u03b9\u03bf\u03bb\u03bf\u03b3\u03b9\u03ba\u03cc\u03c2.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u039a\u03b1\u03c4\u03ac \u03c4\u03b7\u03bd \u03ba\u03bb\u03b9\u03bd\u03b9\u03ba\u03ae \u03b5\u03be\u03ad\u03c4\u03b1\u03c3\u03b7 \u03ba\u03b1\u03c4\u03b1\u03b3\u03c1\u03ac\u03c6\u03b7\u03ba\u03b1\u03bd \u03c7\u03b1\u03c1\u03b1\u03ba\u03c4\u03b7\u03c1\u03b9\u03c3\u03c4\u03b9\u03ba\u03ac \u03c0\u03bf\u03c5 \u03bc\u03c0\u03bf\u03c1\u03bf\u03cd\u03bd \u03bd\u03b1 \u03c0\u03b1\u03c1\u03b1\u03c4\u03b7\u03c1\u03b7\u03b8\u03bf\u03cd\u03bd \u03c3\u03c4\u03bf Kleefstra, \u03cc\u03c0\u03c9\u03c2 \u03b5\u03c5\u03c1\u03cd \u03bc\u03ad\u03c4\u03c9\u03c0\u03bf, \u03bc\u03b5\u03b3\u03ac\u03bb\u03b7 \u03b1\u03c0\u03cc\u03c3\u03c4\u03b1\u03c3\u03b7 \u03bc\u03b5\u03c4\u03b1\u03be\u03cd \u03c4\u03c9\u03bd \u03bf\u03c6\u03b8\u03b1\u03bb\u03bc\u03ce\u03bd, \u03c7\u03b1\u03bc\u03b7\u03bb\u03ae \u03c1\u03b9\u03bd\u03b9\u03ba\u03ae \u03b3\u03ad\u03c6\u03c5\u03c1\u03b1, \u03c1\u03bf\u03c5\u03b8\u03bf\u03cd\u03bd\u03b9\u03b1 \u03bc\u03b5 \u03ba\u03bb\u03af\u03c3\u03b7 \u03c0\u03c1\u03bf\u03c2 \u03c4\u03b1 \u03b5\u03bc\u03c0\u03c1\u03cc\u03c2, \u03c5\u03c0\u03bf\u03c0\u03bb\u03b1\u03c3\u03af\u03b1 \u03c4\u03bf\u03c5 \u03bc\u03ad\u03c3\u03bf\u03c5 \u03c0\u03c1\u03bf\u03c3\u03ce\u03c0\u03bf\u03c5 \u03ba\u03b1\u03b9 \u03c7\u03b1\u03c1\u03b1\u03ba\u03c4\u03b7\u03c1\u03b9\u03c3\u03c4\u03b9\u03ba\u03ae \u03b4\u03b9\u03b1\u03bc\u03cc\u03c1\u03c6\u03c9\u03c3\u03b7 \u03c4\u03bf\u03c5 \u03ac\u03bd\u03c9 \u03ba\u03b1\u03b9 \u03ba\u03ac\u03c4\u03c9 \u03c7\u03b5\u03af\u03bb\u03bf\u03c5\u03c2. \u039a\u03b1\u03c4\u03b1\u03b3\u03c1\u03ac\u03c6\u03b7\u03ba\u03b1\u03bd \u03b5\u03c0\u03af\u03c3\u03b7\u03c2 \u03bc\u03b9\u03ba\u03c1\u03ac \u03b4\u03cc\u03bd\u03c4\u03b9\u03b1 \u03ba\u03b1\u03b9 \u03b1\u03bc\u03c6\u03bf\u03c4\u03b5\u03c1\u03cc\u03c0\u03bb\u03b5\u03c5\u03c1\u03b7 \u03ba\u03bb\u03b9\u03bd\u03bf\u03b4\u03b1\u03ba\u03c4\u03c5\u03bb\u03af\u03b1 \u03c4\u03bf\u03c5 \u03c0\u03ad\u03bc\u03c0\u03c4\u03bf\u03c5 \u03b4\u03b1\u03ba\u03c4\u03cd\u03bb\u03bf\u03c5 \u03c4\u03c9\u03bd \u03c0\u03bf\u03b4\u03b9\u03ce\u03bd.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u0397 \u03b1\u03bd\u03b1\u03c0\u03c4\u03c5\u03be\u03b9\u03b1\u03ba\u03ae \u03b4\u03c5\u03c3\u03ba\u03bf\u03bb\u03af\u03b1 \u03c0\u03b1\u03c1\u03ad\u03bc\u03b5\u03b9\u03bd\u03b5 \u03b5\u03bc\u03c6\u03b1\u03bd\u03ae\u03c2 \u03ba\u03b1\u03b9 \u03c3\u03c4\u03b7\u03bd \u03b5\u03c0\u03b1\u03bd\u03b5\u03ba\u03c4\u03af\u03bc\u03b7\u03c3\u03b7 \u03c3\u03c4\u03bf\u03c5\u03c2 24 \u03bc\u03ae\u03bd\u03b5\u03c2. \u03a4\u03bf \u03c0\u03b1\u03b9\u03b4\u03af \u03b5\u03af\u03c7\u03b5 \u03ba\u03b1\u03c4\u03b1\u03c6\u03ad\u03c1\u03b5\u03b9 \u03bd\u03b1 \u03bc\u03c0\u03bf\u03c5\u03c3\u03bf\u03c5\u03bb\u03ac \u03bc\u03b5 \u03c4\u03b7 \u03b2\u03bf\u03ae\u03b8\u03b5\u03b9\u03b1 \u03c6\u03c5\u03c3\u03b9\u03bf\u03b8\u03b5\u03c1\u03b1\u03c0\u03b5\u03af\u03b1\u03c2, \u03b1\u03bb\u03bb\u03ac \u03b4\u03b5\u03bd \u03b5\u03af\u03c7\u03b5 \u03b1\u03ba\u03cc\u03bc\u03b7 \u03b1\u03c0\u03bf\u03ba\u03c4\u03ae\u03c3\u03b5\u03b9 \u03b1\u03bd\u03b5\u03be\u03ac\u03c1\u03c4\u03b7\u03c4\u03b7 \u03b2\u03ac\u03b4\u03b9\u03c3\u03b7 \u03ae \u03b5\u03ba\u03c6\u03c1\u03b1\u03c3\u03c4\u03b9\u03ba\u03cc \u03bb\u03cc\u03b3\u03bf. \u03a4\u03bf \u03c7\u03b1\u03bc\u03b7\u03bb\u03cc \u03b1\u03bd\u03ac\u03c3\u03c4\u03b7\u03bc\u03b1 \u03b5\u03be\u03b1\u03ba\u03bf\u03bb\u03bf\u03c5\u03b8\u03bf\u03cd\u03c3\u03b5 \u03bd\u03b1 \u03b5\u03af\u03bd\u03b1\u03b9 \u03ad\u03bd\u03c4\u03bf\u03bd\u03bf. <\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u03a4\u03b1 \u03c7\u03b1\u03c1\u03b1\u03ba\u03c4\u03b7\u03c1\u03b9\u03c3\u03c4\u03b9\u03ba\u03ac \u03b1\u03c5\u03c4\u03ac \u03bc\u03c0\u03bf\u03c1\u03bf\u03cd\u03c3\u03b1\u03bd \u03bd\u03b1 \u03b4\u03b7\u03bc\u03b9\u03bf\u03c5\u03c1\u03b3\u03ae\u03c3\u03bf\u03c5\u03bd \u03c4\u03b7\u03bd \u03c5\u03c0\u03bf\u03c8\u03af\u03b1 \u03b3\u03b5\u03bd\u03b5\u03c4\u03b9\u03ba\u03ae\u03c2 \u03bd\u03b5\u03c5\u03c1\u03bf\u03b1\u03bd\u03b1\u03c0\u03c4\u03c5\u03be\u03b9\u03b1\u03ba\u03ae\u03c2 \u03b4\u03b9\u03b1\u03c4\u03b1\u03c1\u03b1\u03c7\u03ae\u03c2. \u0394\u03b5\u03bd \u03bc\u03c0\u03bf\u03c1\u03bf\u03cd\u03c3\u03b1\u03bd \u03cc\u03bc\u03c9\u03c2 \u03b1\u03c0\u03cc \u03bc\u03cc\u03bd\u03b1 \u03c4\u03bf\u03c5\u03c2 \u03bd\u03b1 \u03b1\u03c0\u03bf\u03b4\u03b5\u03af\u03be\u03bf\u03c5\u03bd \u03cc\u03c4\u03b9 \u03b5\u03c0\u03c1\u03cc\u03ba\u03b5\u03b9\u03c4\u03bf \u03b3\u03b9\u03b1 \u03c3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03bf Kleefstra. \u039a\u03b1\u03b9 \u03b5\u03b4\u03ce \u03b2\u03c1\u03af\u03c3\u03ba\u03b5\u03c4\u03b1\u03b9 \u03ad\u03bd\u03b1 \u03b1\u03c0\u03cc \u03c4\u03b1 \u03c3\u03b7\u03bc\u03b1\u03bd\u03c4\u03b9\u03ba\u03cc\u03c4\u03b5\u03c1\u03b1 \u03c3\u03b7\u03bc\u03b5\u03af\u03b1 \u03c4\u03b7\u03c2 \u03c3\u03c5\u03b3\u03ba\u03b5\u03ba\u03c1\u03b9\u03bc\u03ad\u03bd\u03b7\u03c2 \u03b9\u03c3\u03c4\u03bf\u03c1\u03af\u03b1\u03c2.<\/p>\n<\/div>\n\n\n\n<div class=\"wp-block-column kleefstra-figure is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:33.33%\">\n<figure class=\"wp-block-image size-full\"><img fetchpriority=\"high\" decoding=\"async\" width=\"672\" height=\"356\" src=\"https:\/\/kleefstrasyndrome.com\/wp-content\/uploads\/2026\/04\/rwanda_KS.jpg\" alt=\"\" class=\"wp-image-2194\" srcset=\"https:\/\/kleefstrasyndrome.com\/wp-content\/uploads\/2026\/04\/rwanda_KS.jpg 672w, https:\/\/kleefstrasyndrome.com\/wp-content\/uploads\/2026\/04\/rwanda_KS-600x318.jpg 600w, https:\/\/kleefstrasyndrome.com\/wp-content\/uploads\/2026\/04\/rwanda_KS-450x238.jpg 450w, https:\/\/kleefstrasyndrome.com\/wp-content\/uploads\/2026\/04\/rwanda_KS-300x159.jpg 300w\" sizes=\"(max-width: 672px) 100vw, 672px\" \/><\/figure>\n\n\n\n<p class=\"kleefstra-caption wp-block-paragraph\"><strong>\u0395\u03b9\u03ba\u03cc\u03bd\u03b1 1.<\/strong> (\u0391) \u039c\u03b5\u03c4\u03c9\u03c0\u03b9\u03b1\u03af\u03b1 \u03cc\u03c8\u03b7 \u03c4\u03bf\u03c5 \u03c0\u03c1\u03bf\u03c3\u03ce\u03c0\u03bf\u03c5, \u03c3\u03c4\u03b7\u03bd \u03bf\u03c0\u03bf\u03af\u03b1 \u03b4\u03b9\u03b1\u03ba\u03c1\u03af\u03bd\u03bf\u03bd\u03c4\u03b1\u03b9 \u03b5\u03c5\u03c1\u03cd \u03bc\u03ad\u03c4\u03c9\u03c0\u03bf, \u03b1\u03c5\u03be\u03b7\u03bc\u03ad\u03bd\u03b7 \u03b1\u03c0\u03cc\u03c3\u03c4\u03b1\u03c3\u03b7 \u03bc\u03b5\u03c4\u03b1\u03be\u03cd \u03c4\u03c9\u03bd \u03bf\u03c6\u03b8\u03b1\u03bb\u03bc\u03ce\u03bd (\u03c5\u03c0\u03b5\u03c1\u03c4\u03b5\u03bb\u03bf\u03c1\u03b9\u03c3\u03bc\u03cc\u03c2), \u03c7\u03b1\u03bc\u03b7\u03bb\u03ae \u03c1\u03b9\u03bd\u03b9\u03ba\u03ae \u03b3\u03ad\u03c6\u03c5\u03c1\u03b1, \u03c0\u03c1\u03cc\u03c3\u03b8\u03b9\u03b1 \u03c3\u03c4\u03c1\u03b1\u03bc\u03bc\u03ad\u03bd\u03b1 \u03c1\u03bf\u03c5\u03b8\u03bf\u03cd\u03bd\u03b9\u03b1, \u03c7\u03b1\u03c1\u03b1\u03ba\u03c4\u03b7\u03c1\u03b9\u03c3\u03c4\u03b9\u03ba\u03ae \u03b4\u03b9\u03b1\u03bc\u03cc\u03c1\u03c6\u03c9\u03c3\u03b7 \u03c4\u03bf\u03c5 \u03ac\u03bd\u03c9 \u03ba\u03b1\u03b9 \u03ba\u03ac\u03c4\u03c9 \u03c7\u03b5\u03af\u03bb\u03bf\u03c5\u03c2 \u03ba\u03b1\u03b9 \u03c5\u03c0\u03bf\u03c0\u03bb\u03b1\u03c3\u03af\u03b1 \u03c4\u03bf\u03c5 \u03bc\u03ad\u03c3\u03bf\u03c5 \u03c4\u03c1\u03b9\u03c4\u03b7\u03bc\u03bf\u03c1\u03af\u03bf\u03c5 \u03c4\u03bf\u03c5 \u03c0\u03c1\u03bf\u03c3\u03ce\u03c0\u03bf\u03c5. (\u0392) \u03a0\u03bb\u03ac\u03b3\u03b9\u03b1 \u03cc\u03c8\u03b7, \u03cc\u03c0\u03bf\u03c5 \u03b5\u03af\u03bd\u03b1\u03b9 \u03b5\u03bc\u03c6\u03b1\u03bd\u03ae\u03c2 \u03b7 \u03c5\u03c0\u03bf\u03c0\u03bb\u03b1\u03c3\u03af\u03b1 \u03c4\u03bf\u03c5 \u03bc\u03ad\u03c3\u03bf\u03c5 \u03c0\u03c1\u03bf\u03c3\u03ce\u03c0\u03bf\u03c5 \u03ba\u03b1\u03b9 \u03b7 \u03c3\u03c5\u03bd\u03bf\u03bb\u03b9\u03ba\u03ae \u03bc\u03bf\u03c1\u03c6\u03bf\u03bb\u03bf\u03b3\u03af\u03b1 \u03c0\u03bf\u03c5 \u03c0\u03b5\u03c1\u03b9\u03b3\u03c1\u03ac\u03c6\u03b5\u03c4\u03b1\u03b9 \u03c9\u03c2 \u03c3\u03c5\u03bc\u03b2\u03b1\u03c4\u03ae \u03bc\u03b5 \u03c4\u03bf \u03c3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03bf Kleefstra.<br><em>\u03a0\u03b7\u03b3\u03ae: Dukuze N, Hitayezu J, Uyisenga JP, et al. The First Case of Kleefstra Syndrome in a Rwandan Patient with Global Developmental Delay. Genes. 2026;17(4):429.<\/em><\/p>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u03a4\u03b9 \u03b1\u03c0\u03bf\u03ba\u03ac\u03bb\u03c5\u03c8\u03b5 \u03b7 \u03b1\u03bb\u03bb\u03b7\u03bb\u03bf\u03cd\u03c7\u03b9\u03c3\u03b7 \u03b5\u03be\u03ce\u03bc\u03b1\u03c4\u03bf\u03c2<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u0393\u03b9\u03b1 \u03c4\u03b7 \u03b4\u03b9\u03b5\u03c1\u03b5\u03cd\u03bd\u03b7\u03c3\u03b7 \u03c0\u03c1\u03b1\u03b3\u03bc\u03b1\u03c4\u03bf\u03c0\u03bf\u03b9\u03ae\u03b8\u03b7\u03ba\u03b5 <strong>trio whole-exome sequencing<\/strong>, \u03b4\u03b7\u03bb\u03b1\u03b4\u03ae \u03b1\u03bb\u03bb\u03b7\u03bb\u03bf\u03cd\u03c7\u03b9\u03c3\u03b7 \u03c4\u03bf\u03c5 \u03b5\u03be\u03ce\u03bc\u03b1\u03c4\u03bf\u03c2 \u03c4\u03bf\u03c5 \u03c0\u03b1\u03b9\u03b4\u03b9\u03bf\u03cd \u03c0\u03b1\u03c1\u03ac\u03bb\u03bb\u03b7\u03bb\u03b1 \u03bc\u03b5 \u03b5\u03ba\u03b5\u03af\u03bd\u03b7 \u03ba\u03b1\u03b9 \u03c4\u03c9\u03bd \u03b4\u03cd\u03bf \u03b3\u03bf\u03bd\u03ad\u03c9\u03bd.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u0397 \u03b1\u03bd\u03ac\u03bb\u03c5\u03c3\u03b7 \u03b5\u03bd\u03c4\u03cc\u03c0\u03b9\u03c3\u03b5 \u03bc\u03b9\u03b1 \u03b5\u03c4\u03b5\u03c1\u03cc\u03b6\u03c5\u03b3\u03b7 \u03c0\u03b1\u03c1\u03b1\u03bb\u03bb\u03b1\u03b3\u03ae \u03c3\u03c4\u03bf \u03b3\u03bf\u03bd\u03af\u03b4\u03b9\u03bf <em>EHMT1<\/em>:<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>NM_024757.5: c.2871dup; p.(Phe958Leufs*219)<\/strong>.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u0397 \u03c3\u03c5\u03b3\u03ba\u03b5\u03ba\u03c1\u03b9\u03bc\u03ad\u03bd\u03b7 \u03b1\u03bb\u03bb\u03b1\u03b3\u03ae \u03c0\u03c1\u03bf\u03c3\u03b8\u03ad\u03c4\u03b5\u03b9 \u03ad\u03bd\u03b1 \u03b5\u03c0\u03b9\u03c0\u03bb\u03ad\u03bf\u03bd \u03bd\u03bf\u03c5\u03ba\u03bb\u03b5\u03bf\u03c4\u03af\u03b4\u03b9\u03bf \u03c3\u03c4\u03b7\u03bd \u03b1\u03bb\u03bb\u03b7\u03bb\u03bf\u03c5\u03c7\u03af\u03b1 \u03ba\u03b1\u03b9 \u03bc\u03b5\u03c4\u03b1\u03c4\u03bf\u03c0\u03af\u03b6\u03b5\u03b9 \u03c4\u03bf \u03c0\u03bb\u03b1\u03af\u03c3\u03b9\u03bf \u03b1\u03bd\u03ac\u03b3\u03bd\u03c9\u03c3\u03b7\u03c2 \u03c4\u03bf\u03c5 \u03b3\u03bf\u03bd\u03b9\u03b4\u03af\u03bf\u03c5, \u03c0\u03c1\u03cc\u03ba\u03b5\u03b9\u03c4\u03b1\u03b9 \u03b4\u03b7\u03bb\u03b1\u03b4\u03ae \u03b3\u03b9\u03b1 <strong>frameshift variant<\/strong>. \u0397 \u03bc\u03b5\u03c4\u03b1\u03c4\u03cc\u03c0\u03b9\u03c3\u03b7 \u03bf\u03b4\u03b7\u03b3\u03b5\u03af \u03c3\u03c4\u03b7 \u03b4\u03b7\u03bc\u03b9\u03bf\u03c5\u03c1\u03b3\u03af\u03b1 \u03c0\u03c1\u03cc\u03c9\u03c1\u03bf\u03c5 \u03c3\u03ae\u03bc\u03b1\u03c4\u03bf\u03c2 \u03c4\u03b5\u03c1\u03bc\u03b1\u03c4\u03b9\u03c3\u03bc\u03bf\u03cd \u03ba\u03b1\u03b9, \u03ba\u03b1\u03c4\u03ac \u03c3\u03c5\u03bd\u03ad\u03c0\u03b5\u03b9\u03b1, \u03c3\u03b5 \u03b1\u03c0\u03ce\u03bb\u03b5\u03b9\u03b1 \u03c4\u03b7\u03c2 \u03c6\u03c5\u03c3\u03b9\u03bf\u03bb\u03bf\u03b3\u03b9\u03ba\u03ae\u03c2 \u03bb\u03b5\u03b9\u03c4\u03bf\u03c5\u03c1\u03b3\u03af\u03b1\u03c2 \u03c4\u03bf\u03c5 \u03b5\u03bd\u03cc\u03c2 \u03b1\u03bd\u03c4\u03b9\u03b3\u03c1\u03ac\u03c6\u03bf\u03c5 \u03c4\u03bf\u03c5 <em>EHMT1<\/em>. \u0391\u03c5\u03c4\u03cc\u03c2 \u03b1\u03ba\u03c1\u03b9\u03b2\u03ce\u03c2 \u03bf \u03bc\u03b7\u03c7\u03b1\u03bd\u03b9\u03c3\u03bc\u03cc\u03c2, \u03b7 \u03b1\u03bd\u03b5\u03c0\u03b1\u03c1\u03ba\u03ae\u03c2 \u03c0\u03bf\u03c3\u03cc\u03c4\u03b7\u03c4\u03b1 \u03bb\u03b5\u03b9\u03c4\u03bf\u03c5\u03c1\u03b3\u03b9\u03ba\u03bf\u03cd EHMT1, \u03b1\u03c0\u03bf\u03c4\u03b5\u03bb\u03b5\u03af \u03c4\u03bf\u03bd \u03b3\u03bd\u03c9\u03c3\u03c4\u03cc \u03bc\u03bf\u03c1\u03b9\u03b1\u03ba\u03cc \u03bc\u03b7\u03c7\u03b1\u03bd\u03b9\u03c3\u03bc\u03cc \u03c4\u03bf\u03c5 \u03c3\u03c5\u03bd\u03b4\u03c1\u03cc\u03bc\u03bf\u03c5 Kleefstra \u03c4\u03cd\u03c0\u03bf\u03c5 1.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u0397 \u03c0\u03b1\u03c1\u03b1\u03bb\u03bb\u03b1\u03b3\u03ae \u03b4\u03b5\u03bd \u03b1\u03bd\u03b9\u03c7\u03bd\u03b5\u03cd\u03b8\u03b7\u03ba\u03b5 \u03c3\u03b5 \u03b2\u03ac\u03c3\u03b5\u03b9\u03c2 \u03b4\u03b5\u03b4\u03bf\u03bc\u03ad\u03bd\u03c9\u03bd \u03b3\u03b5\u03bd\u03b9\u03ba\u03bf\u03cd \u03c0\u03bb\u03b7\u03b8\u03c5\u03c3\u03bc\u03bf\u03cd \u03ba\u03b1\u03b9, \u03b5\u03c0\u03b5\u03b9\u03b4\u03ae \u03b5\u03be\u03b5\u03c4\u03ac\u03c3\u03c4\u03b7\u03ba\u03b1\u03bd \u03c4\u03b1\u03c5\u03c4\u03cc\u03c7\u03c1\u03bf\u03bd\u03b1 \u03ba\u03b1\u03b9 \u03bf\u03b9 \u03b4\u03cd\u03bf \u03b3\u03bf\u03bd\u03b5\u03af\u03c2, \u03bf\u03b9 \u03b5\u03c1\u03b5\u03c5\u03bd\u03b7\u03c4\u03ad\u03c2 \u03bc\u03c0\u03cc\u03c1\u03b5\u03c3\u03b1\u03bd \u03bd\u03b1 \u03b5\u03c0\u03b9\u03b2\u03b5\u03b2\u03b1\u03b9\u03ce\u03c3\u03bf\u03c5\u03bd \u03cc\u03c4\u03b9 \u03ae\u03c4\u03b1\u03bd <strong>de novo<\/strong>, \u03b4\u03b7\u03bb\u03b1\u03b4\u03ae \u03b5\u03af\u03c7\u03b5 \u03b5\u03bc\u03c6\u03b1\u03bd\u03b9\u03c3\u03c4\u03b5\u03af \u03b3\u03b9\u03b1 \u03c0\u03c1\u03ce\u03c4\u03b7 \u03c6\u03bf\u03c1\u03ac \u03c3\u03c4\u03bf \u03c0\u03b1\u03b9\u03b4\u03af \u03ba\u03b1\u03b9 \u03b4\u03b5\u03bd \u03b5\u03af\u03c7\u03b5 \u03ba\u03bb\u03b7\u03c1\u03bf\u03bd\u03bf\u03bc\u03b7\u03b8\u03b5\u03af \u03b1\u03c0\u03cc \u03ba\u03ac\u03c0\u03bf\u03b9\u03bf\u03bd \u03b1\u03c0\u03cc \u03c4\u03bf\u03c5\u03c2 \u03b3\u03bf\u03bd\u03b5\u03af\u03c2. \u039c\u03b5 \u03b2\u03ac\u03c3\u03b7 \u03c4\u03b1 \u03ba\u03c1\u03b9\u03c4\u03ae\u03c1\u03b9\u03b1 ACMG \u03c0\u03bf\u03c5 \u03b5\u03c6\u03ac\u03c1\u03bc\u03bf\u03c3\u03b5 \u03b7 \u03b5\u03c1\u03b5\u03c5\u03bd\u03b7\u03c4\u03b9\u03ba\u03ae \u03bf\u03bc\u03ac\u03b4\u03b1, \u03c4\u03b1\u03be\u03b9\u03bd\u03bf\u03bc\u03ae\u03b8\u03b7\u03ba\u03b5 \u03c9\u03c2 <strong>\u03c0\u03b1\u03b8\u03bf\u03b3\u03cc\u03bd\u03bf\u03c2<\/strong>, \u03b5\u03c0\u03b9\u03b2\u03b5\u03b2\u03b1\u03b9\u03ce\u03bd\u03bf\u03bd\u03c4\u03b1\u03c2 \u03bc\u03bf\u03c1\u03b9\u03b1\u03ba\u03ac \u03c4\u03b7 \u03b4\u03b9\u03ac\u03b3\u03bd\u03c9\u03c3\u03b7 \u03c4\u03bf\u03c5 \u03c3\u03c5\u03bd\u03b4\u03c1\u03cc\u03bc\u03bf\u03c5 Kleefstra. \u0391\u03c5\u03c4\u03cc \u03ad\u03c7\u03b5\u03b9 \u03b9\u03b4\u03b9\u03b1\u03af\u03c4\u03b5\u03c1\u03b7 \u03c3\u03b7\u03bc\u03b1\u03c3\u03af\u03b1, \u03b5\u03c0\u03b5\u03b9\u03b4\u03ae \u03c4\u03bf Kleefstra \u03b4\u03b5\u03bd \u03c0\u03c1\u03bf\u03ba\u03b1\u03bb\u03b5\u03af\u03c4\u03b1\u03b9 \u03bc\u03cc\u03bd\u03bf \u03b1\u03c0\u03cc \u03bc\u03b5\u03b3\u03ac\u03bb\u03b5\u03c2 \u03b4\u03b9\u03b1\u03b3\u03c1\u03b1\u03c6\u03ad\u03c2 \u03c3\u03c4\u03b7\u03bd \u03c0\u03b5\u03c1\u03b9\u03bf\u03c7\u03ae 9q34.3. \u03a0\u03b5\u03c1\u03af\u03c0\u03bf\u03c5 \u03bf\u03b9 \u03bc\u03b9\u03c3\u03ad\u03c2 \u03bc\u03bf\u03c1\u03b9\u03b1\u03ba\u03ad\u03c2 \u03b4\u03b9\u03b1\u03b3\u03bd\u03ce\u03c3\u03b5\u03b9\u03c2 \u03b1\u03c6\u03bf\u03c1\u03bf\u03cd\u03bd \u03b5\u03bd\u03b4\u03bf\u03b3\u03bf\u03bd\u03b9\u03b4\u03b9\u03b1\u03ba\u03ad\u03c2 \u03c0\u03b1\u03b8\u03bf\u03b3\u03cc\u03bd\u03b5\u03c2 \u03c0\u03b1\u03c1\u03b1\u03bb\u03bb\u03b1\u03b3\u03ad\u03c2 \u03c4\u03bf\u03c5 <em>EHMT1<\/em>, \u03bf\u03b9 \u03bf\u03c0\u03bf\u03af\u03b5\u03c2 \u03b1\u03c0\u03b1\u03b9\u03c4\u03bf\u03cd\u03bd \u03ba\u03b1\u03c4\u03ac\u03bb\u03bb\u03b7\u03bb\u03b5\u03c2 \u03bc\u03bf\u03c1\u03b9\u03b1\u03ba\u03ad\u03c2 \u03bc\u03b5\u03b8\u03cc\u03b4\u03bf\u03c5\u03c2 \u03b3\u03b9\u03b1 \u03bd\u03b1 \u03b1\u03bd\u03b9\u03c7\u03bd\u03b5\u03c5\u03b8\u03bf\u03cd\u03bd. \u0388\u03bd\u03b1\u03c2 \u03b1\u03c0\u03bb\u03cc\u03c2 \u03ba\u03b1\u03c1\u03c5\u03cc\u03c4\u03c5\u03c0\u03bf\u03c2, \u03b3\u03b9\u03b1 \u03c0\u03b1\u03c1\u03ac\u03b4\u03b5\u03b9\u03b3\u03bc\u03b1, \u03b4\u03b5\u03bd \u03bc\u03c0\u03bf\u03c1\u03b5\u03af \u03bd\u03b1 \u03b1\u03bd\u03b1\u03b3\u03bd\u03c9\u03c1\u03af\u03c3\u03b5\u03b9 \u03c4\u03b9\u03c2 \u03c0\u03b5\u03c1\u03b9\u03c3\u03c3\u03cc\u03c4\u03b5\u03c1\u03b5\u03c2 \u03c4\u03ad\u03c4\u03bf\u03b9\u03b5\u03c2 \u03bc\u03b5\u03c4\u03b1\u03b2\u03bf\u03bb\u03ad\u03c2.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u0393\u03b9\u03b1\u03c4\u03af \u03ad\u03bd\u03b1 \u03bc\u03cc\u03bd\u03bf \u03c0\u03b5\u03c1\u03b9\u03c3\u03c4\u03b1\u03c4\u03b9\u03ba\u03cc \u03ad\u03c7\u03b5\u03b9 \u03b5\u03bd\u03b4\u03b9\u03b1\u03c6\u03ad\u03c1\u03bf\u03bd<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u0388\u03bd\u03b1 case report \u03b4\u03b5\u03bd \u03bc\u03c0\u03bf\u03c1\u03b5\u03af \u03bd\u03b1 \u03bc\u03b1\u03c2 \u03c0\u03b5\u03b9 \u03c0\u03cc\u03c3\u03bf \u03c3\u03c5\u03c7\u03bd\u03cc \u03b5\u03af\u03bd\u03b1\u03b9 \u03c4\u03bf \u03c3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03bf Kleefstra \u03c3\u03c4\u03b7 \u03a1\u03bf\u03c5\u03ac\u03bd\u03c4\u03b1 \u03ae \u03b3\u03b5\u03bd\u03b9\u03ba\u03cc\u03c4\u03b5\u03c1\u03b1 \u03c3\u03c4\u03b7\u03bd \u0391\u03c6\u03c1\u03b9\u03ba\u03ae. \u0394\u03b5\u03bd \u03bc\u03c0\u03bf\u03c1\u03b5\u03af \u03b5\u03c0\u03af\u03c3\u03b7\u03c2 \u03bd\u03b1 \u03c7\u03c1\u03b7\u03c3\u03b9\u03bc\u03bf\u03c0\u03bf\u03b9\u03b7\u03b8\u03b5\u03af \u03b3\u03b9\u03b1 \u03bd\u03b1 \u03c5\u03c0\u03bf\u03c3\u03c4\u03b7\u03c1\u03af\u03be\u03b5\u03b9 \u03cc\u03c4\u03b9 \u03c4\u03b1 \u03c0\u03b1\u03b9\u03b4\u03b9\u03ac \u03b1\u03c6\u03c1\u03b9\u03ba\u03b1\u03bd\u03b9\u03ba\u03ae\u03c2 \u03ba\u03b1\u03c4\u03b1\u03b3\u03c9\u03b3\u03ae\u03c2 \u03ad\u03c7\u03bf\u03c5\u03bd \u03b4\u03b9\u03b1\u03c6\u03bf\u03c1\u03b5\u03c4\u03b9\u03ba\u03ae \u03ba\u03bb\u03b9\u03bd\u03b9\u03ba\u03ae \u03b5\u03b9\u03ba\u03cc\u03bd\u03b1. \u03a4\u03bf \u03b3\u03b5\u03b3\u03bf\u03bd\u03cc\u03c2 \u03cc\u03c4\u03b9 \u03b1\u03c5\u03c4\u03ae \u03b5\u03af\u03bd\u03b1\u03b9 \u03b7 \u03c0\u03c1\u03ce\u03c4\u03b7 \u03b4\u03b7\u03bc\u03bf\u03c3\u03b9\u03b5\u03c5\u03bc\u03ad\u03bd\u03b7 \u03bc\u03bf\u03c1\u03b9\u03b1\u03ba\u03ac \u03b5\u03c0\u03b9\u03b2\u03b5\u03b2\u03b1\u03b9\u03c9\u03bc\u03ad\u03bd\u03b7 \u03c0\u03b5\u03c1\u03af\u03c0\u03c4\u03c9\u03c3\u03b7 \u03c3\u03c4\u03b7 \u03a1\u03bf\u03c5\u03ac\u03bd\u03c4\u03b1 <strong>\u03b4\u03b5\u03bd \u03c3\u03b7\u03bc\u03b1\u03af\u03bd\u03b5\u03b9 \u03cc\u03c4\u03b9 \u03b5\u03af\u03bd\u03b1\u03b9 \u03ba\u03b1\u03b9 \u03c4\u03bf \u03c0\u03c1\u03ce\u03c4\u03bf \u03ac\u03c4\u03bf\u03bc\u03bf \u03bc\u03b5 Kleefstra \u03c0\u03bf\u03c5 \u03b3\u03b5\u03bd\u03bd\u03ae\u03b8\u03b7\u03ba\u03b5 \u03ae \u03b6\u03b5\u03b9 \u03c3\u03c4\u03b7 \u03c7\u03ce\u03c1\u03b1<\/strong>. \u03a0\u03bf\u03bb\u03cd \u03c0\u03b9\u03b8\u03b1\u03bd\u03cc\u03c4\u03b5\u03c1\u03b1 \u03b1\u03bd\u03c4\u03b1\u03bd\u03b1\u03ba\u03bb\u03ac \u03c4\u03bf \u03c0\u03cc\u03c3\u03bf \u03b4\u03cd\u03c3\u03ba\u03bf\u03bb\u03b7 \u03b5\u03af\u03bd\u03b1\u03b9 \u03b7 \u03c0\u03c1\u03cc\u03c3\u03b2\u03b1\u03c3\u03b7 \u03c3\u03b5 \u03b5\u03be\u03b5\u03b9\u03b4\u03b9\u03ba\u03b5\u03c5\u03bc\u03ad\u03bd\u03bf \u03b3\u03b5\u03bd\u03b5\u03c4\u03b9\u03ba\u03cc \u03ad\u03bb\u03b5\u03b3\u03c7\u03bf \u03b3\u03b9\u03b1 \u03c0\u03bf\u03bb\u03bb\u03ad\u03c2 \u03bf\u03b9\u03ba\u03bf\u03b3\u03ad\u03bd\u03b5\u03b9\u03b5\u03c2.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u039f\u03b9 \u03af\u03b4\u03b9\u03bf\u03b9 \u03bf\u03b9 \u03c3\u03c5\u03b3\u03b3\u03c1\u03b1\u03c6\u03b5\u03af\u03c2 \u03c3\u03b7\u03bc\u03b5\u03b9\u03ce\u03bd\u03bf\u03c5\u03bd \u03cc\u03c4\u03b9 \u03bf\u03b9 \u03bc\u03bf\u03c1\u03b9\u03b1\u03ba\u03ac \u03b5\u03c0\u03b9\u03b2\u03b5\u03b2\u03b1\u03b9\u03c9\u03bc\u03ad\u03bd\u03b5\u03c2 \u03c0\u03b5\u03c1\u03b9\u03c0\u03c4\u03ce\u03c3\u03b5\u03b9\u03c2 Kleefstra \u03c0\u03bf\u03c5 \u03ad\u03c7\u03bf\u03c5\u03bd \u03b4\u03b7\u03bc\u03bf\u03c3\u03b9\u03b5\u03c5\u03b8\u03b5\u03af \u03b1\u03c0\u03cc \u03c4\u03b7\u03bd \u0391\u03c6\u03c1\u03b9\u03ba\u03ae \u03b5\u03af\u03bd\u03b1\u03b9 \u03b5\u03be\u03b1\u03b9\u03c1\u03b5\u03c4\u03b9\u03ba\u03ac \u03bb\u03af\u03b3\u03b5\u03c2. \u03a0\u03c1\u03b9\u03bd \u03b1\u03c0\u03cc \u03b1\u03c5\u03c4\u03ae \u03c4\u03b7\u03bd \u03b5\u03c1\u03b3\u03b1\u03c3\u03af\u03b1 \u03b1\u03bd\u03b1\u03c6\u03ad\u03c1\u03bf\u03bd\u03c4\u03b1\u03bd \u03c0\u03b5\u03c1\u03b9\u03c0\u03c4\u03ce\u03c3\u03b5\u03b9\u03c2 \u03ae \u03b4\u03b5\u03b4\u03bf\u03bc\u03ad\u03bd\u03b1 \u03b1\u03c0\u03cc \u03c4\u03b7 \u039d\u03cc\u03c4\u03b9\u03b1 \u0391\u03c6\u03c1\u03b9\u03ba\u03ae, \u03c4\u03b7\u03bd \u0391\u03af\u03b3\u03c5\u03c0\u03c4\u03bf \u03ba\u03b1\u03b9 \u03c4\u03bf \u039c\u03b1\u03c1\u03cc\u03ba\u03bf, \u03b5\u03bd\u03ce \u03b4\u03b5\u03bd \u03b5\u03af\u03c7\u03b5 \u03b1\u03bd\u03b1\u03c6\u03b5\u03c1\u03b8\u03b5\u03af \u03b5\u03c0\u03b9\u03b2\u03b5\u03b2\u03b1\u03b9\u03c9\u03bc\u03ad\u03bd\u03bf \u03c0\u03b5\u03c1\u03b9\u03c3\u03c4\u03b1\u03c4\u03b9\u03ba\u03cc \u03b1\u03c0\u03cc \u03c4\u03b7 \u03a1\u03bf\u03c5\u03ac\u03bd\u03c4\u03b1.<\/p>\n\n\n\n<p class=\"is-style-info wp-block-paragraph\">\u03a4\u03bf \u03b3\u03b5\u03b3\u03bf\u03bd\u03cc\u03c2 \u03b1\u03c5\u03c4\u03cc \u03b4\u03b5\u03bd \u03b1\u03c0\u03bf\u03c4\u03b5\u03bb\u03b5\u03af \u03b1\u03c0\u03cc\u03b4\u03b5\u03b9\u03be\u03b7 \u03cc\u03c4\u03b9 \u03c4\u03bf \u03c3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03bf \u03b5\u03af\u03bd\u03b1\u03b9 \u03c3\u03c0\u03b1\u03bd\u03b9\u03cc\u03c4\u03b5\u03c1\u03bf \u03c3\u03c4\u03b7\u03bd \u0391\u03c6\u03c1\u03b9\u03ba\u03ae. \u0395\u03af\u03bd\u03b1\u03b9 \u03c0\u03b5\u03c1\u03b9\u03c3\u03c3\u03cc\u03c4\u03b5\u03c1\u03bf \u03bc\u03b9\u03b1 \u03ad\u03bd\u03b4\u03b5\u03b9\u03be\u03b7 \u03cc\u03c4\u03b9 <strong>\u03cc\u03c0\u03bf\u03c5 \u03b4\u03b5\u03bd \u03c5\u03c0\u03ac\u03c1\u03c7\u03b5\u03b9 \u03c0\u03c1\u03cc\u03c3\u03b2\u03b1\u03c3\u03b7 \u03c3\u03c4\u03b7 \u03b3\u03b5\u03bd\u03b5\u03c4\u03b9\u03ba\u03ae \u03b4\u03b9\u03ac\u03b3\u03bd\u03c9\u03c3\u03b7, \u03bf\u03b9 \u03c3\u03c0\u03ac\u03bd\u03b9\u03b5\u03c2 \u03b3\u03b5\u03bd\u03b5\u03c4\u03b9\u03ba\u03ad\u03c2 \u03c0\u03b1\u03b8\u03ae\u03c3\u03b5\u03b9\u03c2 \u03c0\u03b1\u03c1\u03b1\u03bc\u03ad\u03bd\u03bf\u03c5\u03bd \u03c3\u03b5 \u03bc\u03b5\u03b3\u03ac\u03bb\u03bf \u03b2\u03b1\u03b8\u03bc\u03cc \u03b1\u03cc\u03c1\u03b1\u03c4\u03b5\u03c2<\/strong>.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u03a4\u03bf \u03c0\u03c1\u03cc\u03b2\u03bb\u03b7\u03bc\u03b1 \u03c4\u03b7\u03c2 \u03c0\u03c1\u03cc\u03c3\u03b2\u03b1\u03c3\u03b7\u03c2 \u03c3\u03c4\u03b7 \u03b3\u03b5\u03bd\u03b5\u03c4\u03b9\u03ba\u03ae \u03b4\u03b9\u03ac\u03b3\u03bd\u03c9\u03c3\u03b7<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u0397 \u03af\u03b4\u03b9\u03b1 \u03b7 \u03b5\u03c1\u03b3\u03b1\u03c3\u03af\u03b1 \u03b4\u03af\u03bd\u03b5\u03b9 \u03ad\u03bd\u03b1 \u03b9\u03b4\u03b9\u03b1\u03af\u03c4\u03b5\u03c1\u03b1 \u03c7\u03b1\u03c1\u03b1\u03ba\u03c4\u03b7\u03c1\u03b9\u03c3\u03c4\u03b9\u03ba\u03cc \u03c3\u03c4\u03bf\u03b9\u03c7\u03b5\u03af\u03bf. \u039f\u03b9 \u03c3\u03c5\u03b3\u03b3\u03c1\u03b1\u03c6\u03b5\u03af\u03c2 \u03b1\u03bd\u03b1\u03c6\u03ad\u03c1\u03bf\u03c5\u03bd \u03cc\u03c4\u03b9 \u03c3\u03c4\u03b7 \u03a1\u03bf\u03c5\u03ac\u03bd\u03c4\u03b1 \u03c5\u03c0\u03ae\u03c1\u03c7\u03b1\u03bd \u03bc\u03cc\u03bb\u03b9\u03c2 <strong>\u03c4\u03c1\u03b5\u03b9\u03c2 \u03b3\u03b5\u03bd\u03b5\u03c4\u03b9\u03c3\u03c4\u03ad\u03c2 \u03b3\u03b9\u03b1 \u03ad\u03bd\u03b1\u03bd \u03c0\u03bb\u03b7\u03b8\u03c5\u03c3\u03bc\u03cc \u03c0\u03b5\u03c1\u03af\u03c0\u03bf\u03c5 14 \u03b5\u03ba\u03b1\u03c4\u03bf\u03bc\u03bc\u03c5\u03c1\u03af\u03c9\u03bd \u03b1\u03bd\u03b8\u03c1\u03ce\u03c0\u03c9\u03bd<\/strong>, \u03b5\u03bd\u03ce \u03c3\u03b7\u03bc\u03b1\u03bd\u03c4\u03b9\u03ba\u03cc \u03bc\u03ad\u03c1\u03bf\u03c2 \u03c4\u03b7\u03c2 \u03b4\u03b9\u03b1\u03b8\u03ad\u03c3\u03b9\u03bc\u03b7\u03c2 \u03b3\u03b5\u03bd\u03b5\u03c4\u03b9\u03ba\u03ae\u03c2 \u03b4\u03b9\u03ac\u03b3\u03bd\u03c9\u03c3\u03b7\u03c2 \u03b2\u03b1\u03c3\u03b9\u03b6\u03cc\u03c4\u03b1\u03bd \u03c3\u03b5 \u03c3\u03c5\u03bc\u03b2\u03b1\u03c4\u03b9\u03ba\u03ad\u03c2 \u03ba\u03c5\u03c4\u03c4\u03b1\u03c1\u03bf\u03b3\u03b5\u03bd\u03b5\u03c4\u03b9\u03ba\u03ad\u03c2 \u03c4\u03b5\u03c7\u03bd\u03b9\u03ba\u03ad\u03c2 \u03cc\u03c0\u03c9\u03c2 \u03bf \u03ba\u03b1\u03c1\u03c5\u03cc\u03c4\u03c5\u03c0\u03bf\u03c2.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u0393\u03b9\u03b1 \u03c4\u03bf \u03c3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03bf Kleefstra \u03b1\u03c5\u03c4\u03cc \u03b1\u03c0\u03bf\u03c4\u03b5\u03bb\u03b5\u03af \u03c0\u03c1\u03b1\u03b3\u03bc\u03b1\u03c4\u03b9\u03ba\u03cc \u03b4\u03b9\u03b1\u03b3\u03bd\u03c9\u03c3\u03c4\u03b9\u03ba\u03cc \u03c0\u03b5\u03c1\u03b9\u03bf\u03c1\u03b9\u03c3\u03bc\u03cc.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u039f \u03ba\u03b1\u03c1\u03c5\u03cc\u03c4\u03c5\u03c0\u03bf\u03c2 \u03bc\u03c0\u03bf\u03c1\u03b5\u03af \u03bd\u03b1 \u03b5\u03bd\u03c4\u03bf\u03c0\u03af\u03c3\u03b5\u03b9 \u03bc\u03b5\u03b3\u03ac\u03bb\u03b5\u03c2 \u03c7\u03c1\u03c9\u03bc\u03bf\u03c3\u03c9\u03bc\u03b9\u03ba\u03ad\u03c2 \u03bc\u03b5\u03c4\u03b1\u03b2\u03bf\u03bb\u03ad\u03c2, \u03b1\u03bb\u03bb\u03ac \u03b4\u03b5\u03bd \u03b5\u03af\u03bd\u03b1\u03b9 \u03ba\u03b1\u03c4\u03ac\u03bb\u03bb\u03b7\u03bb\u03bf\u03c2 \u03b3\u03b9\u03b1 \u03c4\u03b7\u03bd \u03b1\u03bd\u03af\u03c7\u03bd\u03b5\u03c5\u03c3\u03b7 \u03bc\u03b9\u03b1\u03c2 \u03bc\u03b9\u03ba\u03c1\u03ae\u03c2 \u03c0\u03b1\u03b8\u03bf\u03b3\u03cc\u03bd\u03bf\u03c5 \u03c0\u03b1\u03c1\u03b1\u03bb\u03bb\u03b1\u03b3\u03ae\u03c2 \u03cc\u03c0\u03c9\u03c2 \u03b7 <code>c.2871dup<\/code> \u03c0\u03bf\u03c5 \u03b2\u03c1\u03ad\u03b8\u03b7\u03ba\u03b5 \u03c3\u03c4\u03bf \u03c3\u03c5\u03b3\u03ba\u03b5\u03ba\u03c1\u03b9\u03bc\u03ad\u03bd\u03bf \u03c0\u03b1\u03b9\u03b4\u03af. \u0391\u03ba\u03cc\u03bc\u03b7 \u03ba\u03b1\u03b9 \u03bf\u03c1\u03b9\u03c3\u03bc\u03ad\u03bd\u03b5\u03c2 \u03bc\u03b9\u03ba\u03c1\u03ad\u03c2 \u03b4\u03b9\u03b1\u03b3\u03c1\u03b1\u03c6\u03ad\u03c2 \u03bc\u03c0\u03bf\u03c1\u03b5\u03af \u03bd\u03b1 \u03c7\u03c1\u03b5\u03b9\u03ac\u03b6\u03bf\u03bd\u03c4\u03b1\u03b9 \u03c0\u03b9\u03bf \u03b5\u03c5\u03b1\u03af\u03c3\u03b8\u03b7\u03c4\u03b5\u03c2 \u03bc\u03b5\u03b8\u03cc\u03b4\u03bf\u03c5\u03c2. \u0393\u03b9\u03b1 \u03c4\u03b7 \u03b4\u03b9\u03ac\u03b3\u03bd\u03c9\u03c3\u03b7 \u03c4\u03bf\u03c5 Kleefstra \u03c7\u03c1\u03b7\u03c3\u03b9\u03bc\u03bf\u03c0\u03bf\u03b9\u03bf\u03cd\u03bd\u03c4\u03b1\u03b9 \u03c3\u03ae\u03bc\u03b5\u03c1\u03b1 \u03c4\u03b5\u03c7\u03bd\u03b9\u03ba\u03ad\u03c2 \u03cc\u03c0\u03c9\u03c2 chromosomal microarray, \u03b1\u03bb\u03bb\u03b7\u03bb\u03bf\u03cd\u03c7\u03b9\u03c3\u03b7 \u03c4\u03bf\u03c5 <em>EHMT1<\/em>, gene panels \u03ae \u03b5\u03c5\u03c1\u03cd\u03c4\u03b5\u03c1\u03b5\u03c2 \u03c0\u03c1\u03bf\u03c3\u03b5\u03b3\u03b3\u03af\u03c3\u03b5\u03b9\u03c2 \u03b1\u03bb\u03bb\u03b7\u03bb\u03bf\u03cd\u03c7\u03b9\u03c3\u03b7\u03c2 \u03cc\u03c0\u03c9\u03c2 \u03c4\u03bf exome sequencing, \u03b1\u03bd\u03ac\u03bb\u03bf\u03b3\u03b1 \u03bc\u03b5 \u03c4\u03b7\u03bd \u03ba\u03bb\u03b9\u03bd\u03b9\u03ba\u03ae \u03c0\u03b5\u03c1\u03af\u03c0\u03c4\u03c9\u03c3\u03b7.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u03a7\u03c9\u03c1\u03af\u03c2 \u03c0\u03c1\u03cc\u03c3\u03b2\u03b1\u03c3\u03b7 \u03c3\u03b5 \u03c4\u03ad\u03c4\u03bf\u03b9\u03b5\u03c2 \u03b5\u03be\u03b5\u03c4\u03ac\u03c3\u03b5\u03b9\u03c2, \u03ad\u03bd\u03b1 \u03c0\u03b1\u03b9\u03b4\u03af \u03bc\u03c0\u03bf\u03c1\u03b5\u03af \u03bd\u03b1 \u03bb\u03ac\u03b2\u03b5\u03b9 \u03c4\u03b7 \u03b3\u03b5\u03bd\u03b9\u03ba\u03ae \u03b4\u03b9\u03ac\u03b3\u03bd\u03c9\u03c3\u03b7 \u00ab\u03b1\u03bd\u03b1\u03c0\u03c4\u03c5\u03be\u03b9\u03b1\u03ba\u03ae \u03ba\u03b1\u03b8\u03c5\u03c3\u03c4\u03ad\u03c1\u03b7\u03c3\u03b7\u00bb \u03ae \u00ab\u03bd\u03bf\u03b7\u03c4\u03b9\u03ba\u03ae \u03b1\u03bd\u03b1\u03c0\u03b7\u03c1\u03af\u03b1\u00bb, \u03c7\u03c9\u03c1\u03af\u03c2 \u03c0\u03bf\u03c4\u03ad \u03bd\u03b1 \u03c0\u03c1\u03bf\u03c3\u03b4\u03b9\u03bf\u03c1\u03b9\u03c3\u03c4\u03b5\u03af \u03b7 \u03c5\u03c0\u03bf\u03ba\u03b5\u03af\u03bc\u03b5\u03bd\u03b7 \u03b3\u03b5\u03bd\u03b5\u03c4\u03b9\u03ba\u03ae \u03b1\u03b9\u03c4\u03af\u03b1.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u039a\u03b1\u03b9 \u03b7 \u03b4\u03b9\u03b1\u03c6\u03bf\u03c1\u03ac \u03b4\u03b5\u03bd \u03b5\u03af\u03bd\u03b1\u03b9 \u03bc\u03cc\u03bd\u03bf \u03bf\u03bd\u03bf\u03bc\u03b1\u03c3\u03c4\u03b9\u03ba\u03ae.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u0397 \u03c3\u03c9\u03c3\u03c4\u03ae \u03b3\u03b5\u03bd\u03b5\u03c4\u03b9\u03ba\u03ae \u03b4\u03b9\u03ac\u03b3\u03bd\u03c9\u03c3\u03b7 \u03bc\u03c0\u03bf\u03c1\u03b5\u03af \u03bd\u03b1 \u03ba\u03b1\u03c4\u03b5\u03c5\u03b8\u03cd\u03bd\u03b5\u03b9 \u03c4\u03b7\u03bd \u03ba\u03bb\u03b9\u03bd\u03b9\u03ba\u03ae \u03c0\u03b1\u03c1\u03b1\u03ba\u03bf\u03bb\u03bf\u03cd\u03b8\u03b7\u03c3\u03b7, \u03bd\u03b1 \u03b2\u03bf\u03b7\u03b8\u03ae\u03c3\u03b5\u03b9 \u03c4\u03b7\u03bd \u03bf\u03b9\u03ba\u03bf\u03b3\u03ad\u03bd\u03b5\u03b9\u03b1 \u03bd\u03b1 \u03ba\u03b1\u03c4\u03b1\u03bd\u03bf\u03ae\u03c3\u03b5\u03b9 \u03ba\u03b1\u03bb\u03cd\u03c4\u03b5\u03c1\u03b1 \u03c4\u03b7\u03bd \u03ba\u03b1\u03c4\u03ac\u03c3\u03c4\u03b1\u03c3\u03b7 \u03c4\u03bf\u03c5 \u03c0\u03b1\u03b9\u03b4\u03b9\u03bf\u03cd, \u03bd\u03b1 \u03b5\u03c0\u03b9\u03c4\u03c1\u03ad\u03c8\u03b5\u03b9 \u03b3\u03b5\u03bd\u03b5\u03c4\u03b9\u03ba\u03ae \u03c3\u03c5\u03bc\u03b2\u03bf\u03c5\u03bb\u03b5\u03c5\u03c4\u03b9\u03ba\u03ae \u03ba\u03b1\u03b9 \u03bd\u03b1 \u03b1\u03bd\u03bf\u03af\u03be\u03b5\u03b9 \u03c4\u03bf\u03bd \u03b4\u03c1\u03cc\u03bc\u03bf \u03b3\u03b9\u03b1 \u03c3\u03cd\u03bd\u03b4\u03b5\u03c3\u03b7 \u03bc\u03b5 \u03b5\u03be\u03b5\u03b9\u03b4\u03b9\u03ba\u03b5\u03c5\u03bc\u03ad\u03bd\u03b1 \u03ba\u03ad\u03bd\u03c4\u03c1\u03b1, \u03bf\u03c1\u03b3\u03b1\u03bd\u03ce\u03c3\u03b5\u03b9\u03c2 \u03b1\u03c3\u03b8\u03b5\u03bd\u03ce\u03bd, registries \u03ba\u03b1\u03b9 \u03b5\u03c1\u03b5\u03c5\u03bd\u03b7\u03c4\u03b9\u03ba\u03ad\u03c2 \u03bc\u03b5\u03bb\u03ad\u03c4\u03b5\u03c2.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u03a4\u03b9 \u03bc\u03b1\u03c2 \u03bb\u03ad\u03b5\u03b9 \u03c4\u03bf \u03c0\u03b5\u03c1\u03b9\u03c3\u03c4\u03b1\u03c4\u03b9\u03ba\u03cc \u03b3\u03b9\u03b1 \u03c4\u03bf \u03af\u03b4\u03b9\u03bf \u03c4\u03bf \u03c3\u03cd\u03bd\u03b4\u03c1\u03bf\u03bc\u03bf<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u03a4\u03bf \u03ba\u03bb\u03b9\u03bd\u03b9\u03ba\u03cc \u03c0\u03c1\u03bf\u03c6\u03af\u03bb \u03c4\u03bf\u03c5 \u03c0\u03b1\u03b9\u03b4\u03b9\u03bf\u03cd \u03ae\u03c4\u03b1\u03bd \u03c3\u03b5 \u03bc\u03b5\u03b3\u03ac\u03bb\u03bf \u03b2\u03b1\u03b8\u03bc\u03cc \u03c3\u03c5\u03bc\u03b2\u03b1\u03c4\u03cc \u03bc\u03b5 \u03c4\u03b7\u03bd \u03ae\u03b4\u03b7 \u03b3\u03bd\u03c9\u03c3\u03c4\u03ae \u03b5\u03b9\u03ba\u03cc\u03bd\u03b1 \u03c4\u03bf\u03c5 \u03c3\u03c5\u03bd\u03b4\u03c1\u03cc\u03bc\u03bf\u03c5 \u03c0\u03bf\u03c5 \u03c0\u03b5\u03c1\u03b9\u03bb\u03b1\u03bc\u03b2\u03ac\u03bd\u03b5\u03b9 \u03c5\u03c0\u03bf\u03c4\u03bf\u03bd\u03af\u03b1 \u03b1\u03c0\u03cc \u03c4\u03b7 \u03b2\u03c1\u03b5\u03c6\u03b9\u03ba\u03ae \u03b7\u03bb\u03b9\u03ba\u03af\u03b1, \u03c3\u03b7\u03bc\u03b1\u03bd\u03c4\u03b9\u03ba\u03ae \u03b1\u03bd\u03b1\u03c0\u03c4\u03c5\u03be\u03b9\u03b1\u03ba\u03ae \u03ba\u03b1\u03b8\u03c5\u03c3\u03c4\u03ad\u03c1\u03b7\u03c3\u03b7, \u03ba\u03b1\u03b8\u03c5\u03c3\u03c4\u03ad\u03c1\u03b7\u03c3\u03b7 \u03ba\u03b9\u03bd\u03b7\u03c4\u03b9\u03ba\u03ce\u03bd \u03b4\u03b5\u03be\u03b9\u03bf\u03c4\u03ae\u03c4\u03c9\u03bd \u03ba\u03b1\u03b9 \u03bb\u03cc\u03b3\u03bf\u03c5 \u03ba\u03b1\u03b9 \u03c7\u03b1\u03c1\u03b1\u03ba\u03c4\u03b7\u03c1\u03b9\u03c3\u03c4\u03b9\u03ba\u03ac \u03c4\u03bf\u03c5 \u03c0\u03c1\u03bf\u03c3\u03ce\u03c0\u03bf\u03c5. \u0391\u03c5\u03c4\u03ac \u03b1\u03bd\u03ae\u03ba\u03bf\u03c5\u03bd \u03c3\u03c4\u03b1 \u03ba\u03b1\u03bb\u03ac \u03c4\u03b5\u03ba\u03bc\u03b7\u03c1\u03b9\u03c9\u03bc\u03ad\u03bd\u03b1 \u03c7\u03b1\u03c1\u03b1\u03ba\u03c4\u03b7\u03c1\u03b9\u03c3\u03c4\u03b9\u03ba\u03ac \u03c4\u03bf\u03c5 KLEFS1. \u039f\u03b9 \u03c3\u03c5\u03b3\u03b3\u03c1\u03b1\u03c6\u03b5\u03af\u03c2 \u03b4\u03af\u03bd\u03bf\u03c5\u03bd \u03b9\u03b4\u03b9\u03b1\u03af\u03c4\u03b5\u03c1\u03b7 \u03c0\u03c1\u03bf\u03c3\u03bf\u03c7\u03ae \u03c3\u03c4\u03bf \u03c7\u03b1\u03bc\u03b7\u03bb\u03cc \u03b1\u03bd\u03ac\u03c3\u03c4\u03b7\u03bc\u03b1, \u03c3\u03c4\u03b7\u03bd \u03b1\u03bc\u03c6\u03bf\u03c4\u03b5\u03c1\u03cc\u03c0\u03bb\u03b5\u03c5\u03c1\u03b7 \u03ba\u03bb\u03b9\u03bd\u03bf\u03b4\u03b1\u03ba\u03c4\u03c5\u03bb\u03af\u03b1 \u03c4\u03bf\u03c5 \u03c0\u03ad\u03bc\u03c0\u03c4\u03bf\u03c5 \u03b4\u03b1\u03ba\u03c4\u03cd\u03bb\u03bf\u03c5 \u03c4\u03c9\u03bd \u03c0\u03bf\u03b4\u03b9\u03ce\u03bd \u03ba\u03b1\u03b9 \u03c3\u03c4\u03bf \u03b3\u03b5\u03b3\u03bf\u03bd\u03cc\u03c2 \u03cc\u03c4\u03b9 \u03c4\u03bf \u03c0\u03b1\u03b9\u03b4\u03af \u03b4\u03b5\u03bd \u03c0\u03b1\u03c1\u03bf\u03c5\u03c3\u03af\u03b1\u03b6\u03b5 \u03c0\u03b1\u03c7\u03c5\u03c3\u03b1\u03c1\u03ba\u03af\u03b1. \u03a4\u03b1 \u03c3\u03c4\u03bf\u03b9\u03c7\u03b5\u03af\u03b1 \u03b1\u03c5\u03c4\u03ac \u03ad\u03c7\u03bf\u03c5\u03bd \u03b5\u03bd\u03b4\u03b9\u03b1\u03c6\u03ad\u03c1\u03bf\u03bd \u03c9\u03c2 \u03bc\u03ad\u03c1\u03bf\u03c2 \u03c4\u03b7\u03c2 \u03ba\u03bb\u03b9\u03bd\u03b9\u03ba\u03ae\u03c2 \u03ba\u03b1\u03c4\u03b1\u03b3\u03c1\u03b1\u03c6\u03ae\u03c2, \u03b1\u03bb\u03bb\u03ac \u03c7\u03c1\u03b5\u03b9\u03ac\u03b6\u03bf\u03bd\u03c4\u03b1\u03b9 \u03c0\u03c1\u03bf\u03c3\u03bf\u03c7\u03ae \u03c3\u03c4\u03b7\u03bd \u03b5\u03c1\u03bc\u03b7\u03bd\u03b5\u03af\u03b1 \u03c4\u03bf\u03c5\u03c2. \u0388\u03bd\u03b1 \u03bc\u03b5\u03bc\u03bf\u03bd\u03c9\u03bc\u03ad\u03bd\u03bf \u03c0\u03b1\u03b9\u03b4\u03af \u03b7\u03bb\u03b9\u03ba\u03af\u03b1\u03c2 \u03b4\u03cd\u03bf \u03b5\u03c4\u03ce\u03bd \u03b4\u03b5\u03bd \u03bc\u03c0\u03bf\u03c1\u03b5\u03af \u03bd\u03b1 \u03ba\u03b1\u03b8\u03bf\u03c1\u03af\u03c3\u03b5\u03b9 \u03b5\u03ac\u03bd \u03ad\u03bd\u03b1 \u03c7\u03b1\u03c1\u03b1\u03ba\u03c4\u03b7\u03c1\u03b9\u03c3\u03c4\u03b9\u03ba\u03cc \u03b5\u03af\u03bd\u03b1\u03b9 \u03c0\u03b5\u03c1\u03b9\u03c3\u03c3\u03cc\u03c4\u03b5\u03c1\u03bf \u03ae \u03bb\u03b9\u03b3\u03cc\u03c4\u03b5\u03c1\u03bf \u03c3\u03c5\u03c7\u03bd\u03cc \u03c3\u03c4\u03bf Kleefstra. \u0395\u03b9\u03b4\u03b9\u03ba\u03ac \u03b7 \u03b1\u03c0\u03bf\u03c5\u03c3\u03af\u03b1 \u03c0\u03b1\u03c7\u03c5\u03c3\u03b1\u03c1\u03ba\u03af\u03b1\u03c2 \u03c3\u03b5 \u03b1\u03c5\u03c4\u03ae \u03c4\u03b7\u03bd \u03b7\u03bb\u03b9\u03ba\u03af\u03b1 \u03b4\u03b5\u03bd \u03c0\u03c1\u03ad\u03c0\u03b5\u03b9 \u03bd\u03b1 \u03b8\u03b5\u03c9\u03c1\u03b7\u03b8\u03b5\u03af \u03b1\u03c3\u03c5\u03bd\u03ae\u03b8\u03b9\u03c3\u03c4\u03b7 \u03ae \u03c0\u03c1\u03bf\u03c3\u03c4\u03b1\u03c4\u03b5\u03c5\u03c4\u03b9\u03ba\u03ae, \u03ba\u03b1\u03b8\u03ce\u03c2 \u03b7 \u03b1\u03cd\u03be\u03b7\u03c3\u03b7 \u03c4\u03bf\u03c5 \u03b2\u03ac\u03c1\u03bf\u03c5\u03c2 \u03c0\u03bf\u03c5 \u03c0\u03b5\u03c1\u03b9\u03b3\u03c1\u03ac\u03c6\u03b5\u03c4\u03b1\u03b9 \u03c3\u03b5 \u03bc\u03ad\u03c1\u03bf\u03c2 \u03c4\u03bf\u03c5 \u03c0\u03bb\u03b7\u03b8\u03c5\u03c3\u03bc\u03bf\u03cd \u03bc\u03b5 Kleefstra \u03b1\u03c6\u03bf\u03c1\u03ac \u03c3\u03c5\u03c7\u03bd\u03ac \u03bc\u03b5\u03c4\u03b1\u03b3\u03b5\u03bd\u03ad\u03c3\u03c4\u03b5\u03c1\u03b1 \u03c3\u03c4\u03ac\u03b4\u03b9\u03b1 \u03c4\u03b7\u03c2 \u03c0\u03b1\u03b9\u03b4\u03b9\u03ba\u03ae\u03c2 \u03b7\u03bb\u03b9\u03ba\u03af\u03b1\u03c2.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u0395\u03c0\u03bf\u03bc\u03ad\u03bd\u03c9\u03c2, \u03b7 \u03c3\u03c5\u03b3\u03ba\u03b5\u03ba\u03c1\u03b9\u03bc\u03ad\u03bd\u03b7 \u03c0\u03b5\u03c1\u03af\u03c0\u03c4\u03c9\u03c3\u03b7 <strong>\u03c0\u03c1\u03bf\u03c3\u03b8\u03ad\u03c4\u03b5\u03b9 \u03bc\u03af\u03b1 \u03b1\u03ba\u03cc\u03bc\u03b7 \u03ba\u03b1\u03bb\u03ac \u03c4\u03b5\u03ba\u03bc\u03b7\u03c1\u03b9\u03c9\u03bc\u03ad\u03bd\u03b7 \u03c0\u03b1\u03c1\u03b1\u03c4\u03ae\u03c1\u03b7\u03c3\u03b7 \u03c3\u03c4\u03bf \u03c6\u03ac\u03c3\u03bc\u03b1 \u03c4\u03bf\u03c5 \u03c3\u03c5\u03bd\u03b4\u03c1\u03cc\u03bc\u03bf\u03c5<\/strong>, \u03b1\u03bb\u03bb\u03ac \u03b4\u03b5\u03bd \u03b5\u03c0\u03b1\u03bd\u03b1\u03c0\u03c1\u03bf\u03c3\u03b4\u03b9\u03bf\u03c1\u03af\u03b6\u03b5\u03b9 \u03c4\u03bf\u03bd \u03c6\u03b1\u03b9\u03bd\u03cc\u03c4\u03c5\u03c0\u03cc \u03c4\u03bf\u03c5.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u0393\u03b9\u03b1\u03c4\u03af \u03ad\u03c7\u03b5\u03b9 \u03c3\u03b7\u03bc\u03b1\u03c3\u03af\u03b1 \u03b7 \u03b3\u03b5\u03c9\u03b3\u03c1\u03b1\u03c6\u03b9\u03ba\u03ae \u03c0\u03bf\u03b9\u03ba\u03b9\u03bb\u03bf\u03bc\u03bf\u03c1\u03c6\u03af\u03b1 \u03c3\u03c4\u03b7\u03bd \u03ad\u03c1\u03b5\u03c5\u03bd\u03b1<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u03a5\u03c0\u03ac\u03c1\u03c7\u03b5\u03b9 \u03ba\u03b1\u03b9 \u03ad\u03bd\u03b1\u03c2 \u03b4\u03b5\u03cd\u03c4\u03b5\u03c1\u03bf\u03c2 \u03bb\u03cc\u03b3\u03bf\u03c2 \u03b3\u03b9\u03b1 \u03c4\u03bf\u03bd \u03bf\u03c0\u03bf\u03af\u03bf \u03c4\u03ad\u03c4\u03bf\u03b9\u03b5\u03c2 \u03b4\u03b7\u03bc\u03bf\u03c3\u03b9\u03b5\u03cd\u03c3\u03b5\u03b9\u03c2 \u03ad\u03c7\u03bf\u03c5\u03bd \u03b1\u03be\u03af\u03b1.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u0397 \u03b3\u03bd\u03ce\u03c3\u03b7 \u03bc\u03b1\u03c2 \u03b3\u03b9\u03b1 \u03c4\u03b9\u03c2 \u03c3\u03c0\u03ac\u03bd\u03b9\u03b5\u03c2 \u03b3\u03b5\u03bd\u03b5\u03c4\u03b9\u03ba\u03ad\u03c2 \u03c0\u03b1\u03b8\u03ae\u03c3\u03b5\u03b9\u03c2 \u03b4\u03b7\u03bc\u03b9\u03bf\u03c5\u03c1\u03b3\u03b5\u03af\u03c4\u03b1\u03b9 \u03b1\u03c0\u03cc \u03c4\u03bf\u03c5\u03c2 \u03b1\u03bd\u03b8\u03c1\u03ce\u03c0\u03bf\u03c5\u03c2 \u03c0\u03bf\u03c5 \u03ba\u03b1\u03c4\u03bf\u03c1\u03b8\u03ce\u03bd\u03bf\u03c5\u03bd \u03bd\u03b1 \u03c6\u03c4\u03ac\u03c3\u03bf\u03c5\u03bd \u03c3\u03b5 \u03b4\u03b9\u03ac\u03b3\u03bd\u03c9\u03c3\u03b7, \u03c3\u03b5 \u03b5\u03be\u03b5\u03b9\u03b4\u03b9\u03ba\u03b5\u03c5\u03bc\u03ad\u03bd\u03b1 \u03bd\u03bf\u03c3\u03bf\u03ba\u03bf\u03bc\u03b5\u03af\u03b1 \u03ba\u03b1\u03b9 \u03c4\u03b5\u03bb\u03b9\u03ba\u03ac \u03c3\u03b5 \u03b5\u03c1\u03b5\u03c5\u03bd\u03b7\u03c4\u03b9\u03ba\u03ad\u03c2 \u03bf\u03bc\u03ac\u03b4\u03b5\u03c2. \u0395\u03ac\u03bd \u03c3\u03c5\u03b3\u03ba\u03b5\u03ba\u03c1\u03b9\u03bc\u03ad\u03bd\u03b5\u03c2 \u03c7\u03ce\u03c1\u03b5\u03c2 \u03ba\u03b1\u03b9 \u03c0\u03bb\u03b7\u03b8\u03c5\u03c3\u03bc\u03bf\u03af \u03c5\u03c0\u03bf\u03b5\u03ba\u03c0\u03c1\u03bf\u03c3\u03c9\u03c0\u03bf\u03cd\u03bd\u03c4\u03b1\u03b9 \u03c3\u03c4\u03b7 \u03b3\u03b5\u03bd\u03b5\u03c4\u03b9\u03ba\u03ae \u03ad\u03c1\u03b5\u03c5\u03bd\u03b1, \u03c4\u03cc\u03c4\u03b5 \u03ba\u03b1\u03b9 \u03b7 \u03b5\u03b9\u03ba\u03cc\u03bd\u03b1 \u03c0\u03bf\u03c5 \u03ad\u03c7\u03bf\u03c5\u03bc\u03b5 \u03b3\u03b9\u03b1 \u03bc\u03b9\u03b1 \u03c0\u03ac\u03b8\u03b7\u03c3\u03b7 \u03bc\u03c0\u03bf\u03c1\u03b5\u03af \u03bd\u03b1 \u03b1\u03bd\u03c4\u03b1\u03bd\u03b1\u03ba\u03bb\u03ac \u03b4\u03c5\u03c3\u03b1\u03bd\u03ac\u03bb\u03bf\u03b3\u03b1 \u03c4\u03bf\u03c5\u03c2 \u03c0\u03bb\u03b7\u03b8\u03c5\u03c3\u03bc\u03bf\u03cd\u03c2 \u03bc\u03b5 \u03ba\u03b1\u03bb\u03cd\u03c4\u03b5\u03c1\u03b7 \u03c0\u03c1\u03cc\u03c3\u03b2\u03b1\u03c3\u03b7 \u03c3\u03b5 \u03b3\u03b5\u03bd\u03b5\u03c4\u03b9\u03ba\u03ad\u03c2 \u03c5\u03c0\u03b7\u03c1\u03b5\u03c3\u03af\u03b5\u03c2.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u03a3\u03c4\u03bf Kleefstra, \u03cc\u03c0\u03bf\u03c5 \u03b1\u03ba\u03cc\u03bc\u03b7 \u03c0\u03c1\u03bf\u03c3\u03c0\u03b1\u03b8\u03bf\u03cd\u03bc\u03b5 \u03bd\u03b1 \u03ba\u03b1\u03c4\u03b1\u03bd\u03bf\u03ae\u03c3\u03bf\u03c5\u03bc\u03b5 \u03ba\u03b1\u03bb\u03cd\u03c4\u03b5\u03c1\u03b1 \u03c4\u03bf \u03b5\u03cd\u03c1\u03bf\u03c2 \u03c4\u03c9\u03bd \u03c0\u03b1\u03b8\u03bf\u03b3\u03cc\u03bd\u03c9\u03bd \u03c0\u03b1\u03c1\u03b1\u03bb\u03bb\u03b1\u03b3\u03ce\u03bd \u03c4\u03bf\u03c5 <em>EHMT1<\/em>, \u03c4\u03b9\u03c2 \u03c3\u03c7\u03ad\u03c3\u03b5\u03b9\u03c2 \u03b3\u03bf\u03bd\u03cc\u03c4\u03c5\u03c0\u03bf\u03c5\u2013\u03c6\u03b1\u03b9\u03bd\u03cc\u03c4\u03c5\u03c0\u03bf\u03c5 \u03ba\u03b1\u03b9 \u03c4\u03b7 \u03c6\u03c5\u03c3\u03b9\u03ba\u03ae \u03b9\u03c3\u03c4\u03bf\u03c1\u03af\u03b1 \u03c3\u03b5 \u03b4\u03b9\u03b1\u03c6\u03bf\u03c1\u03b5\u03c4\u03b9\u03ba\u03ad\u03c2 \u03b7\u03bb\u03b9\u03ba\u03af\u03b5\u03c2, \u03b7 \u03ba\u03b1\u03c4\u03b1\u03b3\u03c1\u03b1\u03c6\u03ae \u03b1\u03bd\u03b8\u03c1\u03ce\u03c0\u03c9\u03bd \u03b1\u03c0\u03cc \u03c0\u03b5\u03c1\u03b9\u03c3\u03c3\u03cc\u03c4\u03b5\u03c1\u03b5\u03c2 \u03b3\u03b5\u03c9\u03b3\u03c1\u03b1\u03c6\u03b9\u03ba\u03ad\u03c2 \u03ba\u03b1\u03b9 \u03c0\u03bb\u03b7\u03b8\u03c5\u03c3\u03bc\u03b9\u03b1\u03ba\u03ad\u03c2 \u03bf\u03bc\u03ac\u03b4\u03b5\u03c2 \u03bc\u03c0\u03bf\u03c1\u03b5\u03af \u03bd\u03b1 \u03b2\u03b5\u03bb\u03c4\u03b9\u03ce\u03c3\u03b5\u03b9 \u03c4\u03b7 \u03c3\u03c5\u03bd\u03bf\u03bb\u03b9\u03ba\u03ae \u03b5\u03b9\u03ba\u03cc\u03bd\u03b1 \u03c4\u03b7\u03c2 \u03bd\u03cc\u03c3\u03bf\u03c5. \u0391\u03c5\u03c4\u03cc\u03c2 \u03b5\u03af\u03bd\u03b1\u03b9 \u03ba\u03b1\u03b9 \u03ad\u03bd\u03b1\u03c2 \u03b1\u03c0\u03cc \u03c4\u03bf\u03c5\u03c2 \u03bb\u03cc\u03b3\u03bf\u03c5\u03c2 \u03c0\u03bf\u03c5 \u03bf\u03b9 \u03c3\u03c5\u03b3\u03b3\u03c1\u03b1\u03c6\u03b5\u03af\u03c2 \u03b6\u03b7\u03c4\u03bf\u03cd\u03bd \u03c0\u03b5\u03c1\u03b9\u03c3\u03c3\u03cc\u03c4\u03b5\u03c1\u03b1 \u03b4\u03b5\u03b4\u03bf\u03bc\u03ad\u03bd\u03b1 \u03b1\u03c0\u03cc \u03b4\u03b9\u03b1\u03c6\u03bf\u03c1\u03b5\u03c4\u03b9\u03ba\u03bf\u03cd\u03c2 \u03c0\u03bb\u03b7\u03b8\u03c5\u03c3\u03bc\u03bf\u03cd\u03c2. <\/p>\n\n\n\n<div class=\"wp-block-group kleefstra-sources\"><div class=\"wp-block-group__inner-container is-layout-constrained wp-block-group-is-layout-constrained\">\n<h3 class=\"wp-block-heading\">\u03a0\u03b7\u03b3\u03ad\u03c2 \u03ba\u03b1\u03b9 \u03c3\u03c7\u03b5\u03c4\u03b9\u03ba\u03ae \u03b2\u03b9\u03b2\u03bb\u03b9\u03bf\u03b3\u03c1\u03b1\u03c6\u03af\u03b1<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Dukuze N, Hitayezu J, Uyisenga JP, et al.<\/strong> <em>The First Case of Kleefstra Syndrome in a Rwandan Patient with Global Developmental Delay.<\/em> Genes. 2026;17(4):429. doi:10.3390\/genes17040429. <a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC13115583\/pdf\/genes-17-00429.pdf\">https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC13115583\/pdf\/genes-17-00429.pdf<\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Kleefstra T, de Leeuw N.<\/strong> <em>Kleefstra Syndrome.<\/em> GeneReviews\u00ae. University of Washington, Seattle. \u0395\u03c0\u03b9\u03ba\u03b1\u03b9\u03c1\u03bf\u03c0\u03bf\u03b9\u03b7\u03bc\u03ad\u03bd\u03b7 \u03ba\u03bb\u03b9\u03bd\u03b9\u03ba\u03ae \u03b1\u03bd\u03b1\u03c6\u03bf\u03c1\u03ac \u03b3\u03b9\u03b1 \u03c4\u03b7 \u03b4\u03b9\u03ac\u03b3\u03bd\u03c9\u03c3\u03b7, \u03c4\u03b7 \u03b3\u03b5\u03bd\u03b5\u03c4\u03b9\u03ba\u03ae \u03ba\u03b1\u03b9 \u03c4\u03bf \u03ba\u03bb\u03b9\u03bd\u03b9\u03ba\u03cc \u03c6\u03ac\u03c3\u03bc\u03b1 \u03c4\u03bf\u03c5 KLEFS1.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n<\/div><\/div>\n","protected":false},"excerpt":{"rendered":"<p>\u0388\u03bd\u03b1 \u03c0\u03b1\u03b9\u03b4\u03af 15 \u03bc\u03b7\u03bd\u03ce\u03bd \u03bc\u03b5 \u03b1\u03bd\u03b1\u03c0\u03c4\u03c5\u03be\u03b9\u03b1\u03ba\u03ae \u03ba\u03b1\u03b8\u03c5\u03c3\u03c4\u03ad\u03c1\u03b7\u03c3\u03b7 \u03ba\u03b1\u03b9 \u03c5\u03c0\u03bf\u03c4\u03bf\u03bd\u03af\u03b1 \u03b3\u03af\u03bd\u03b5\u03c4\u03b1\u03b9 \u03c4\u03bf \u03c0\u03c1\u03ce\u03c4\u03bf \u03ac\u03c4\u03bf\u03bc\u03bf \u03c3\u03c4\u03b7 \u03a1\u03bf\u03c5\u03ac\u03bd\u03c4\u03b1&#8230;<\/p>\n","protected":false},"author":1,"featured_media":2468,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_coblocks_attr":"","_coblocks_dimensions":"","_coblocks_responsive_height":"","_coblocks_accordion_ie_support":"","footnotes":""},"categories":[9],"tags":[129,126,36,122,119,127,44,37,128,84,85,117,121,124,120,118,123,97,125],"class_list":["post-2187","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-research","tag-clinical-genetics","tag-de-novo-variant","tag-ehmt1","tag-exome-sequencing","tag-genetic-diagnosis","tag-genomic-medicine","tag-global-health","tag-kleefstra-syndrome","tag-molecular-diagnosis","tag-neurodevelopmental-disorders","tag-rare-diseases","tag-rwanda","tag-whole-exome-sequencing","tag-124","tag-120","tag-118","tag-123","tag--kleefstra","tag-125"],"yoast_head":"<!-- This site is optimized with the Yoast SEO 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