De novo variants in KDM2A cause a syndromic neurodevelopmental disorder
Eric Nathaniel Anderson, Stephan Drukewitz, Sukhleen Kour, Anuradha Venkatakrishnan Chimata, Deepa Soundara Rajan, Senta Schönnagel, Karen Lucy Stals, Deirdre E. Donnelly, Siobhan O’Sullivan, John F. Mantovani, Tiong Yang Tan, Zornitza Stark, Pia Zacher, Nicolas Chatron, Pauline Monin, , Konrad Platzer
This study identifies de novo KDM2A variants as a cause of a syndromic neurodevelopmental disorder with specific clinical features and functional consequences.
medRxiv · Mar 31, 2025 · PreprintGenetic & Genomic Medicine