A sporadic elder case of erythrokeratodermia variabilis with a single base-pair transversion in GJB3 gene successfully treated with systemic vitamin A derivative
Author:
Affiliation:
1. Department of Dermatology; St. Marianna University School of Medicine; Kawasaki Kanagawa Japan
2. Department of Dermatology; Kurume University School of Medicine and Kurume University Institute of Cutaneous Cell Biology; Kurume Fukuoka Japan
Publisher
Wiley
Subject
Dermatology,General Medicine
Reference5 articles.
1. Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis;Richard;Nat Genet,1998
2. Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis;Macari;Am J Hum Genet,2000
3. Genetic heterogeneity in erythrokeratodermia variabilis. novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations;Richard;J Invest Dermatol,2003
4. A new, recurrent mutation of GJB3 (Cx31) in erythrokeratodermia variabilis;Morley;Br J Dermatol,2005
5. Erythrokeratodermia variabilis: first Japanese case documenting GJB3 mutation;Ikeya;J Dermatol,2013
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
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;The Journal of Dermatology;2016-03
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