Article
CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.
Journal of medical genetics - 1 Apr 2006
Jongmans M C J, Admiraal R J, van der Donk K P, Vissers L E L M, Baas A F, Kapusta L, van Hagen J M, Donnai D, de Ravel T J, Veltman J A, Geurts van Kessel A, De Vries B B A, Brunner H G, Hoefsloot L H, van Ravenswaaij C M A
Abstract excerpt
BACKGROUND: CHARGE syndrome is a non-random clustering of congenital anomalies including coloboma, heart defects, choanal atresia, retarded growth and development, genital hypoplasia, ear anomalies, and deafness. A consistent feature in CHARGE syndrome is semicircular canal hypoplasia resulting in vestibular areflexia. Other commonly associated congenital anomalies are facial nerve palsy, cleft lip/palate, and...
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