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Article

Intra-familial phenotypic variability in a Moroccan family with hearing loss and palmoplantar keratoderma (PPK).

Current research in translational medicine - 1 Jan 2000

Bousfiha A, Bakhchane A, Elrharchi S, Dehbi H, Kabine M, Nadifi S, Charoute H, Barakat A

Abstract excerpt

Mutations in the GJB2 gene encoding connexin 26 are the main cause of hereditary hearing impairment. These mutations generate mainly autosomal recessive and rarely autosomal dominant deafness. Dominant mutations in GJB2 can be responsible for isolated deafness as well as syndromic hearing loss associated with various skin abnormalities. Until now few papers discuss dominant mutations in the GJB2 gene. In this...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27316387
DOI: 10.1016/j.retram.2016.01.011

Genes

GJB2

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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Intra-familial phenotypic variability in a Moroccan family with hearing loss and palmoplantar keratoderma (PPK).PMID 27316387Read ↗

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Update of the spectrum of GJB2 gene mutations in 152 Moroccan families with autosomal recessive nonsyndromic hearing loss.Semantic proximity Read ↗

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Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26.Semantic proximity Read ↗

[The mutation 35delG of the gene of the connexin 26 is a frequent cause of autosomal-recessive non-syndromic hearing loss in Morocco].Semantic proximity Read ↗

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Unraveling the Diversity of GJB2 Mutations in Nonsyndromic Hearing Loss: A Comprehensive Study in the Moroccan Population.Semantic proximity Read ↗

Genetic heterogeneity in GJB2, COL4A3, ATP6V1B1 and EDNRB variants detected among hearing impaired families in Morocco.Semantic proximity Read ↗

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