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Article

Connexin-26-associated deafness: phenotypic variability and progression of hearing loss.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2010

Chan Dylan K, Schrijver Iris, Chang Kay W

Abstract excerpt

PURPOSE: To evaluate genotype-phenotype correlation over time for a cohort of children with connexin-26 (GJB2)-associated autosomal recessive hearing loss. METHODS: Fifty-two children were identified from a database of individuals with homozygous or compound heterozygous mutations in GJB2 and sub...

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Source

Identifiers

PMID: 20154630
DOI: 10.1097/GIM.0b013e3181d0d42b

Genes

GJB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20154630-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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