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

Yeonkyung Kim, Ho-Seok Lee, Jung-Seok Yu, Kangmo Ahn, Chang-Seok Ki, Jihyun Kim

Clin Exp Pediatr. 2014;57(1):46-49. Published online January 31, 2014

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 choanae, growth retardation, genital hypoplasia, and ear abnormalities. The chromodomain helicase DNA-binding protein 7 (CHD7) gene, located...

DOI: https://doi.org/10.3345/kjp.2014.57.1.46

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