Alex P A Donovan, Lauren Rosko, Jacob Ellegood, Yushi Redhead, Jeremy B A Green, Jason P Lerch, Jeffrey K Huang, M Albert Basson
CHARGE (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth, Genital anomalies and Ear abnormalities) syndrome is a disorder caused by mutations in the gene encoding CHD7, an ATP dependent chromatin remodelling factor, and is characterised by a diverse array of congenital anomalies. These include a range of neuroanatomical comorbidities which likely underlie the varied neurodevelopmental disorders associated with CHARGE syndrome, which include intellectual disability, motor coordination deficits, executive dysfunction, and autism spectrum disorder...
March 13, 2023: Journal of Anatomy