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Article

Mutations in the CHD7 gene: the experience of a commercial laboratory.

Genetic testing and molecular biomarkers - 1 Dec 2010

Bartels Cynthia F, Scacheri Cheryl, White Lashonda, Scacheri Peter C, Bale Sherri

Abstract excerpt

CHARGE syndrome is an autosomal dominant multisystem disorder caused by mutation in the CHD7 gene, encoding chromodomain helicase DNA-binding protein 7. Molecular diagnostic testing for CHD7 mutation has been available in a clinical setting since 2005. We report here the results from the first 642 unrelated proband samples submitted for testing. Thirty-two percent (n = 203) of patient samples had a heterozygous...

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Identifiers

PMID: 21158681
DOI: 10.1089/gtmb.2010.0101
PMCID: PMC3001831

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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