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Article

Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome.

Clinical genetics - 1 Feb 2013

Husu E, Hove H D, Farholt S, Bille M, Tranebjærg L, Vogel I, Kreiborg S

Abstract excerpt

CHARGE (coloboma of the eye, heart defects, choanal atresia, retarded growth and development, genital hypoplasia and ear anomalies and/or hearing loss) syndrome is a rare genetic, multiple-malformation syndrome. About 80% of patients with a clinical diagnose, have a mutation or a deletion in the gene encoding chromodomain helicase DNA-binding protein 7 (CHD7). Genotype-phenotype correlation is only partly known....

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Source

Identifiers

PMID: 22462537
DOI: 10.1111/j.1399-0004.2012.01884.x

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome.PMID 22462537Read ↗

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.Semantic proximity Read ↗

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

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

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

CHARGE syndrome: an update.Semantic proximity Read ↗

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

Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.Semantic proximity Read ↗

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

Identification of three novel mutations in the CHD7 gene in patients with clinical signs of typical or atypical CHARGE syndrome.Semantic proximity Read ↗

Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome.Semantic proximity Read ↗

[The CHARGE syndrome].Semantic proximity Read ↗

CHARGE syndrome.Semantic proximity Read ↗

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