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Identification of a novel mutation in the CHD7 gene in a patient with CHARGE syndrome

CHARGE syndrome has been estimated to occur in 1:10,000 births worldwide and shows various clinical manifestations. It is a genetic disorder characterized by a specific and a recognizable pattern of anomalies. The major clinical features are ocular coloboma, heart malformations, atresia of the choan...

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Detalles Bibliográficos
Autores principales:	Kim, Yeonkyung, Lee, Ho-Seok, Yu, Jung-Seok, Ahn, Kangmo, Ki, Chang-Seok, Kim, Jihyun
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Korean Pediatric Society 2014
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3935113/ https://www.ncbi.nlm.nih.gov/pubmed/24578717 http://dx.doi.org/10.3345/kjp.2014.57.1.46

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