Amélie Piton

Feb 6, 2023 | nature.com | Anne-Sophie Denommé-Pichon |Ange-Line Bruel |Frédéric Tran Mau-Them |Antonio Vitobello |Amélie Piton |Pierre-Yves Maillard | +10 more

AbstractHaploinsufficiency of TRIP12 causes a neurodevelopmental disorder characterized by intellectual disability associated with epilepsy, autism spectrum disorder and dysmorphic features, also named Clark-Baraitser syndrome. Only a limited number of cases have been reported to date.