CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene

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 v...

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Detalhes bibliográficos
Main Authors: 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, van Kessel, A Geurts, De Vries, B B A, Brunner, H G, Hoefsloot, L H, van Ravenswaaij, C M A
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2006
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2563221/
https://ncbi.nlm.nih.gov/pubmed/16155193
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.036061
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