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Article

CHARGE syndrome: a review.

Journal of paediatrics and child health - 1 Jul 2014

Hsu Peter, Ma Alan, Wilson Meredith, Williams George, Curotta John, Munns Craig F, Mehr Sam

Abstract excerpt

CHARGE syndrome is a complex genetic syndrome, owing to the wide range of tissues/systems affected by mutations in the CHD7 gene. In this review, we discuss the diagnosis, clinical features and management of CHARGE syndrome.

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Source

Identifiers

PMID: 24548020
DOI: 10.1111/jpc.12497

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

CHARGE syndrome: a review.PMID 24548020Read ↗

Gene symbol: CHD7. Disease: CHARGE syndrome.Semantic proximity Read ↗

New insights and advances in CHARGE syndrome: Diagnosis, etiologies, treatments, and research discoveries.Semantic proximity Read ↗

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

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

Mutation update on the CHD7 gene involved in CHARGE syndrome.Semantic proximity Read ↗

CHARGE syndrome and CHD7 gene mutation.Semantic proximity Read ↗

CHARGE syndrome.Semantic proximity Read ↗

[Clinical phenotype and analysis of CHD7 gene variants in three children patients with CHARGE syndrome].Semantic proximity Read ↗

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

CHARGE syndrome: an update.Semantic proximity Read ↗

[CHARGE syndrome in a neonate].Semantic proximity Read ↗

[Clinical phenotype and molecular genetic analysis of seven children with CHARGE syndrome].Semantic proximity Read ↗

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