Research New study examines the gut microbiome in Kleefstra syndrome Katerina Tzimourta, January 20, 2023August 21, 2026 Could the gut microbiome be yet another piece of the complex phenotype of Kleefstra syndrome? This is the question a new study from the Radboud University Medical Center in the Netherlands sought to investigate, which examined...
Research Could some Kleefstra changes be reversible? What a mouse model study showed Katerina Tzimourta, June 26, 2021August 21, 2026 Can some of the brain changes caused by EHMT1 deficiency be reversed even after birth? This was the main question of an important experimental study published in iScience that used...
Research Pulmonary hypertension in patients with Kleefstra syndrome Katerina Tzimourta, September 6, 2018August 21, 2026 In a recent study, Volkan Okur and colleagues published in the American Journal of Medical Genetics Part A a clinical report of three individuals with 9q34.3 microdeletion, congenital heart disease, and pulmonary hypertension. At the same time, the authors reviewed...
Research Sleep disorders and regression in Kleefstra syndrome: a report of three cases Katerina Tzimourta, February 4, 2018August 20, 2026 In 2017, researchers from Radboudumc in the Netherlands, including Prof. Tjitske Kleefstra, published a report in Clinical Neuropharmacology of three individuals with Kleefstra syndrome who presented with severe sleep disorders, psychiatric symptoms, and in...
Research Our case: Multiple coronary fistulas in a girl with Kleefstra syndrome Katerina Tzimourta, October 17, 2016August 20, 2026 Our little Christina As I have written in the first post of this blog, our little girl was born with a rare heart condition. Multiple coronary fistulas. The rarity of the syndrome combined with the appearance of the rare heart condition, for the first...
Research Kleefstra syndrome in two children in Hungary: two clinical cases Katerina Tzimourta, October 4, 2016August 20, 2026 Kinga Hadzsiev and her colleagues published a study conducted on two children from Hungary who have Kleefstra syndrome. The first child has the classic phenotype of the syndrome. In the second child, in addition to the classic phenotype,…