Research The first molecularly confirmed diagnosis of Kleefstra syndrome in Rwanda Katerina Tzimourta, April 22, 2026August 21, 2026 A 15-month-old child with developmental delay and hypotonia becomes the first person in Rwanda…
Research New study from China broadens the genetic picture of Kleefstra syndrome Katerina Tzimourta, December 12, 2025August 21, 2026 A major new study from mainland China adds important information on the genetics and…
Research Greek study describes two new genetic mutations of EHMT1 and highlights the broad spectrum of Kleefstra syndrome Katerina Tzimourta, August 18, 2025August 20, 2026 Two children with the same diagnosis can have a very different course. In Kleefstra syndrome...
Research New clinical study from Boston Children’s Hospital expands the picture of Kleefstra Syndrome Katerina Tzimourta, July 20, 2025August 21, 2026 An important study from the Kleefstra Syndrome Clinic at Boston Children’s Hospital offers one of...
Research Kleefstra syndrome is broader than previously thought: what the largest EHMT1 study in 209 individuals showed Katerina Tzimourta, September 12, 2024August 20, 2026 For many years, the classic description of Kleefstra syndrome was based primarily on individuals with relatively...
Research Speech, language and communication in Kleefstra syndrome: what an international study of 103 individuals showed Katerina Tzimourta, June 11, 2024August 21, 2026 Speech delay is one of the most frequently reported characteristics in Kleefstra syndrome….