Article
Distinct cerebellar foliation anomalies in a CHD7 haploinsufficient mouse model of CHARGE syndrome.
American journal of medical genetics. Part C, Seminars in medical genetics - 1 Dec 2017
Whittaker Danielle E, Kasah Sahrunizam, Donovan Alex P A, Ellegood Jacob, Riegman Kimberley L H, Volk Holger A, McGonnell Imelda, Lerch Jason P, Basson M Albert
Abstract excerpt
Mutations in the gene encoding the ATP dependent chromatin-remodeling factor, CHD7 are the major cause of CHARGE (Coloboma, Heart defects, Atresia of the choanae, Retarded growth and development, Genital-urinary anomalies, and Ear defects) syndrome. Neurodevelopmental defects and a range of neurological signs have been identified in individuals with CHARGE syndrome, including developmental delay, lack of...
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