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Article

KID Syndrome: report of a Scandinavian patient with connexin-26 gene mutation.

Acta dermato-venereologica - 1 Jan 2005

Bygum Anette, Betz Regina C, Kragballe Knud, Steiniche Torben, Peeters Nils, Wuyts Wim, Nöthen Markus M

Abstract excerpt

Keratitis-ichthyosis-deafness syndrome is a rare genodermatosis, which has recently been connected with mutations in the connexin-26 gene, GJB2. We present a 15-year-old boy with erythroderma, hyperkeratotic plaques and deafness. Sequencing analysis showed a heterozygous missense mutation D50N (148G>A) in GJB2. The boy has not yet manifested characteristic eye lesions but his case shows that tardy development of...

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Identifiers

PMID: 15823911
DOI: 10.1080/00015550410024148

Genes

GJB2

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Related research

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Click a neighbor to travelStep 1 · 12 closest

KID Syndrome: report of a Scandinavian patient with connexin-26 gene mutation.PMID 15823911Read ↗

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

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 ↗

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

Extending the phenotypic spectrum of keratitis-ichthyosis-deafness syndrome: report of a patient with GJB2 (G12R) Connexin 26 mutation and unusual clinical findings.Semantic proximity Read ↗

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

Keratitis-ichthyosis-deafness syndrome: Phenotypic heterogeneity and treatment perspective of patients with p.Asp50Asn GJB2 mutation.Semantic proximity Read ↗

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

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

A rare connexin 26 mutation in a patient with a forme fruste of keratitis-ichthyosis-deafness (KID) syndrome.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 ↗

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