Article
Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.
American journal of human genetics - 1 Feb 2006
Lalani Seema R, Safiullah Arsalan M, Fernbach Susan D, Harutyunyan Karine G, Thaller Christina, Peterson Leif E, McPherson John D, Gibbs Richard A, White Lisa D, Hefner Margaret, Davenport Sandra L H, Graham John M, Bacino Carlos A, Glass Nancy L, Towbin Jeffrey A, Craigen William J, Neish Steven R, Lin Angela E, Belmont John W
Abstract excerpt
CHARGE syndrome is a well-established multiple-malformation syndrome with distinctive consensus diagnostic criteria. Characteristic associated anomalies include ocular coloboma, choanal atresia, cranial nerve defects, distinctive external and inner ear abnormalities, hearing loss, cardiovascular malformations, urogenital anomalies, and growth retardation. Recently, mutations of the chromodomain helicase...
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