Article
Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome.
European journal of medical genetics - 1 Jan 2000
Wessels Kathrin, Bohnhorst Bettina, Luhmer Ingrid, Morlot Susanne, Bohring Axel, Jonasson Jon, Epplen Jörg T, Gadzicki Dorothea, Glaser Stefanie, Göhring Gudrun, Mälzer Madeleine, Hein Anke, Arslan-Kirchner Mine, Stuhrmann Manfred, Schmidtke Jörg, Pabst Brigitte
Abstract excerpt
CHARGE syndrome is an autosomal dominant inherited multiple malformation disorder typically characterized by coloboma, choanal atresia, hypoplastic semicircular canal, cranial nerve defects, cardiovascular malformations and ear abnormalities. Mutations in the chromodomain helicase DNA-binding protein 7 (CHD7) gene are the major cause of CHARGE syndrome. Mutation analysis was performed in 18 patients with firm or...
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