Erythrokeratodermia variabilis: First Japanese case documentingGJB3mutation
Author:
Affiliation:
1. Department of Dermatology; Hamamatsu University School of Medicine; Hamamatsu; Japan
2. Section of Dermatology; JA Shizuoka Koseiren Enshu Hospital; Hamamatsu; Japan
Publisher
Wiley
Subject
Dermatology,General Medicine
Reference5 articles.
1. Connexin disorders of the skin;Richard;Clin Dermatol,2005
2. Erythrokeratoderma variabilis without GJB3 or GJB4 mutation: a review of Japanese patients;Nakamura;Br J Dermatol,2007
3. Identification of a novel mutation R42P in the gap junction protein beta-3associated with autosomal dominant erythrokeratoderma variabilis;Wilgoss;J Iinvest Dermatol,1999
4. The spectrum of mutations in erythrokeratodermias-novel and de novo mutations in GJB3;Richard;Hum Genet,2000
5. Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutations;Di;Hum Mol Genet,2002
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1. A Connexin Gene (GJB3) Mutation in a Chinese Family With Erythrokeratodermia Variabilis, Ichthyosis and Nonsyndromic Hearing Loss: Case Report and Mutations Update;Frontiers in Genetics;2022-05-23
2. Erythrokeratodermia variabilis et progressiva with a rare GJB3 mutation;The Journal of Dermatology;2020-04
3. A sporadic elder case of erythrokeratodermia variabilis with a single base-pair transversion in GJB3 gene successfully treated with systemic vitamin A derivative;The Journal of Dermatology;2014-09
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