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Article

Unique autosomal recessive variant of palmoplantar keratoderma associated with hearing loss not caused by known mutations.

Anais brasileiros de dermatologia - 1 Jan 2017

Hegazi Moustafa Abdelaal, Manou Sommen, Sakr Hazem, Camp Guy Van

Abstract excerpt

Inherited Palmoplantar Keratodermas are rare disorders of genodermatosis that are conventionally regarded as autosomal dominant in inheritance with extensive clinical and genetic heterogeneity. This is the first report of a unique autosomal recessive Inherited Palmoplantar keratoderma -sensorineural hearing loss syndrome which has not been reported before in 3 siblings of a large consanguineous family. The...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29267478
DOI: 10.1590/abd1806-4841.20176235
PMCID: PMC5726709

Genes

GJB2
GJB6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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