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Article

A case of mild CHARGE syndrome associated with a splice site mutation in CHD7.

European journal of medical genetics - 1 Apr 2016

Wells Constance, Loundon Natalie, Garabedian Noël, Wiener-Vacher Sylvette, Cordier-Bouvier Marie-Dominique, Goudeffroye Géraldine, Attié-Bitach Tania, Marlin Sandrine

Abstract excerpt

CHARGE syndrome (MIM#214800) (Coloboma, Heart defect, Atresia of choanae, Retarded growth and development, Genital hypoplasia, Ear abnormalities/deafness) is caused by heterozygous mutation of CHD7 transmitted in an autosomal dominant manner. In this report, we describe a patient with bilateral hearing impairment, unusually-shaped ears, no intellectual disability and a patent ductus arteriosus. Further...

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Source

Identifiers

PMID: 26921530
DOI: 10.1016/j.ejmg.2016.02.012

Genes

CHD7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A case of mild CHARGE syndrome associated with a splice site mutation in CHD7.PMID 26921530Read ↗

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