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Article

Novel mutation in GJB4 gene (connexin 30.3) in a family with erythrokeratodermia variabilis.

Acta dermato-venereologica - 27 Mar 2013

Sbidian Emilie, Bousseloua Norredine, Jonard Laurence, Leclerc-Mercier Stéphanie, Bodemer Christine, Hadj-Rabia Smail

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Identifiers

PMID: 23037955
DOI: 10.2340/00015555-1436

Genes

GJB4

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Novel mutation in GJB4 gene (connexin 30.3) in a family with erythrokeratodermia variabilis.PMID 23037955Read ↗

Clinical variability of the GJB4:c.35G > A gene variant: a study of a large Brazilian erythrokeratodermia pedigree.Semantic proximity Read ↗

Erythrokeratodermia variabilis et progressiva with a rare GJB3 mutation.Semantic proximity Read ↗

Novel mutation of connexin 31 causing erythrokeratoderma variabilis.Semantic proximity Read ↗

Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations.Semantic proximity Read ↗

Erythrokeratoderma variabilis without GJB3 or GJB4 mutation: a review of Japanese patients.Semantic proximity Read ↗

Clinical and genetic heterogeneity of erythrokeratoderma variabilis.Semantic proximity Read ↗

Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis.Semantic proximity Read ↗

Novel and recurrent connexin 30.3 and connexin 31 mutations associated with erythrokeratoderma variabilis.Semantic proximity Read ↗

A new, recurrent mutation of GJB3 (Cx31) in erythrokeratodermia variabilis.Semantic proximity Read ↗

The missense mutation G12D in connexin30.3 can cause both erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of GottronSemantic proximity Read ↗

Erythrokeratoderma variabilis caused by a recessive mutation in GJB3.Semantic proximity Read ↗

A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families.Semantic proximity Read ↗

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