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Article

Family history and clefting as major criteria for CHARGE syndrome.

American journal of medical genetics. Part A - 1 Jan 2014

Hughes Susan Starling, Welsh Holly I, Safina Nicole P, Bejaoui Khemissa, Ardinger Holly H

Abstract excerpt

CHARGE syndrome is an autosomal dominant malformation syndrome associated with mutations in CHD7. The condition is typically sporadic with few familial cases reported. The diagnosis of CHARGE syndrome is based on a combination of major and minor criteria comprised of structural and functional abnormalities, most of which are part of the original CHARGE acronym, although additional anomalies have been added. To...

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Source

Identifiers

PMID: 24214489
DOI: 10.1002/ajmg.a.36192

Genes

CHD7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Family history and clefting as major criteria for CHARGE syndrome.PMID 24214489Read ↗

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CHARGE syndrome: a review.Semantic proximity Read ↗

CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.Semantic proximity Read ↗

Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndromeSemantic proximity Read ↗

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

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

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

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

CHARGE: an association or a syndrome?Semantic proximity Read ↗

Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations.Semantic proximity Read ↗

A novel CHD7 variant in a chinese family with CHARGE syndrome.Semantic proximity Read ↗

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