Research What do families living with Kleefstra Syndrome need? A new study gives parents a voice Katerina Tzimourta, November 20, 2025August 21, 2026 What does it mean in practice to raise a child with Kleefstra syndrome? How does everyday life change…
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 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….
Research Weight, growth and metabolism in Kleefstra syndrome: New study of 62 individuals Katerina Tzimourta, May 19, 2024August 20, 2026 Kleefstra syndrome is known primarily as a neurodevelopmental disorder. Hypotonia, developmental delay, the...