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Article

CHARGE syndrome: an update.

European journal of human genetics : EJHG - 1 Apr 2007

Sanlaville Damien, Verloes Alain

Abstract excerpt

CHARGE syndrome is a rare, usually sporadic autosomal dominant disorder due in 2/3 of cases to mutations within the CHD7 gene. The clinical definition has evolved with time. The 3C triad (Coloboma-Choanal atresia-abnormal semicircular Canals), arhinencephaly and rhombencephalic dysfunctions are now considered the most important and constant clues to the diagnosis. We will discuss here recent aspects of the...

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Source

Identifiers

PMID: 17299439
DOI: 10.1038/sj.ejhg.5201778

Genes

CHD7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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CHARGE syndrome: an update.PMID 17299439Read ↗

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[The CHARGE syndrome].Semantic proximity Read ↗

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Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.Semantic proximity Read ↗

Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome.Semantic proximity Read ↗

CHD7 Disorder-Not CHARGE Syndrome-Presenting as Isolated Cochleovestibular Dysfunction.Semantic proximity Read ↗

CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.Semantic proximity Read ↗

CHARGE syndrome: a review.Semantic proximity Read ↗

CHARGE syndrome.Semantic proximity Read ↗

CHD7 mutations and CHARGE syndrome in semicircular canal dysplasia.Semantic proximity Read ↗

Phenotypic spectrum of CHARGE syndrome with CHD7 mutations.Semantic proximity Read ↗

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