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Article

Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family.

European journal of human genetics : EJHG - 1 Feb 2000

Kelsell D P, Wilgoss A L, Richard G, Stevens H P, Munro C S, Leigh I M

Abstract excerpt

Recently, mutations in two gap junction genes, GJB2 and GJB3 (encoding Connexin 26 and Connexin 31, respectively), have been shown to underlie either inherited hearing loss and skin disease or both disorders. In this study, we have extended our analysis of a small family in which palmoplantar keratoderma and various forms of deafness is segregating. In addition to the previously described sequence variant M34T in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10757647
DOI: 10.1038/sj.ejhg.5200407

Genes

GJB2
GJB3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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