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Article

Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss.

The British journal of dermatology - 1 Aug 2009

Nemoto-Hasebe I, Akiyama M, Kudo S, Ishiko A, Tanaka A, Arita K, Shimizu H

Abstract excerpt

BACKGROUND: Connexins, components of the gap junction, are expressed in several organs including the skin and the cochlea. Mutations in connexin genes including GJB2 (Cx26), GJB3 (Cx31), GJB4 (Cx30.3), GJB6 (Cx30) and GJA1 (Cx43) are responsible for various dermatological syndromes and/or inherited hearing loss, frequently showing overlapping phenotypes. OBJECTIVES: To clarify the spectrum of clinical phenotypes...

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Share to Connexin 26
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to GJA1 gene

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Share to Keratoderma, Palmoplantar

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Source

Identifiers

PMID: 19416251
DOI: 10.1111/j.1365-2133.2009.09137.x

Genes

GJB6
GJB2
GJA1
GJB3
GJB4

Variants

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.

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