The extended clinical and genetic spectrum of CTNNB1-related neurodevelopmental disorder

• Autors principals: Seungbok Lee (Autor), Se Song Jang (Autor), Soojin Park (Autor), Jihoon G. Yoon (Autor), Soo Yeon Kim (Autor), Byung Chan Lim (Autor), Jong Hee Chae (Autor)
• Format: Llibre
• Publicat: Frontiers Media S.A., 2022-07-01T00:00:00Z.
• Matèries: article
• Accés en línia: Connect to this object online.

PurposeLoss-of-function mutations of CTNNB1 have been established as the cause of neurodevelopmental disorder with spastic diplegia and visual defects. Although most patients share key phenotypes such as global developmental delay and intellectual disability, patients with CTNNB1-related neurodevelo...