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 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...