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Article

Phenotypic variability of non-syndromic hearing loss in patients heterozygous for both c.35delG of GJB2 and the 342-kb deletion involving GJB6.

Hearing research - 1 Feb 2004

Bolz Hanno, Schade Götz, Ehmer Stefanie, Kothe Christian, Hess Markus, Gal Andreas

Abstract excerpt

Mutations in GJB2, encoding the gap junction protein connexin 26, are the most common cause of inherited non-syndromic hearing loss (NSHL), with a broad spectrum of mutations leading to recessive as well as dominant forms. It has been shown that patients who are compound heterozygous for a 342-kb deletion (Delta(GJB6-D13S1830)) involving a large portion of the 5'-part of GJB6, encoding connexin 30, and a GJB2...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 14759569
DOI: 10.1016/S0378-5955(03)00346-0

Genes

GJB6
GJB2

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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