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Article

Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome.

BMC medical genetics - 7 Aug 2013

Wonkam Ambroise, Noubiap Jean Jacques N, Bosch Jason, Dandara Collet, Toure Geneviève Bengono

Abstract excerpt

BACKGROUND: Keratitis-Ichthyosis-Deafness (KID) syndrome (OMIM 148210) is a congenital ectodermal defect that consists of an atypical ichthyosiform erythroderma associated with congenital sensorineural deafness. KID appears to be genetically heterogeneous and most cases are caused by GJB2 mutations. Mutations in African patients have been rarely described. CASE PRESENTATION: We report on two unrelated Cameroonian...

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Source

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Identifiers

PMID: 23924173
DOI: 10.1186/1471-2350-14-81
PMCID: PMC3750395

Genes

GJB2

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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