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Article

De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome.

American journal of medical genetics. Part A - 15 Feb 2003

Alvarez Araceli, del Castillo Ignacio, Pera Alejandra, Villamar Manuela, Moreno-Pelayo Miguel A, Moreno Felipe, Moreno Ramón, Tapia M Cruz

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12548749
DOI: 10.1002/ajmg.a.10851

Genes

GJB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome.PMID 12548749Read ↗

A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis-ichthyosis-deafness (KID) syndrome.Semantic proximity Read ↗

Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report.Semantic proximity Read ↗

Phenotype in a patient with p.D50N mutation in GJB2 gene resemble both KID and Clouston syndromes.Semantic proximity Read ↗

Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndromeSemantic proximity Read ↗

GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form.Semantic proximity Read ↗

KID Syndrome: report of a Scandinavian patient with connexin-26 gene mutation.Semantic proximity Read ↗

Keratitis-ichthyosis-deafness syndrome with lethal p.Ala88Val variant and severe hypercalcemia.Semantic proximity Read ↗

[Connexin 26 mutation and keratitis-ichthyosis-deafness (KID) syndrome].Semantic proximity Read ↗

Genotype-Phenotype Correlations, Mortality, and Clinical Insights in Keratitis-Ichthyosis-Deafness Syndrome: A Comprehensive Review and Case Report.Semantic proximity Read ↗

A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E.Semantic proximity Read ↗

A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness SyndromeSemantic proximity Read ↗

KID syndrome in a Malaysian child with identification of novel heterozygous missense mutation GJB2 c.581T>A(p. 194Phe>Tyr).Semantic proximity Read ↗

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