A novel mutation of KRT9 gene in a Chinese Han pedigree with epidermolytic palmoplantar keratoderma
Author:
Affiliation:
1. Department of Dermatology; Shandong Provincial Hospital affiliated to Shandong University; Jinan China
2. Institute of Dermatology and Department of Dermatology; Anhui Medical University; Hefei China
Funder
Science Development Plan of Shandong Province
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/jocd.12263/fullpdf
Reference10 articles.
1. How do keratinizing disorders and blistering disorders overlap?;Hamada;Exp Dermatol,2013
2. Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland;Covello;J Invest Dermatol,1998
3. Mutation S233L in the 1B domain of keratin 1 causes epidermolytic palmoplantar keratoderma with “tonotubular” keratin;Terron-Kwiatkowski;J Invest Dermatol,2006
4. A recurrent p.M157R mutation of keratin 9 gene in a Chinese family with epidermolytic palmoplantar keratoderma and literature review;Liang;Int J Dermatol,2014
5. Novel mutation of the KRT 10 gene in a Japanese patient with epidermolytic hyperkeratosis;Makino;J Dermatol,2012
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2. Identification of a Novel KRT9 Frameshift Mutation in a Chinese Pedigree with Epidermolytic Palmoplantar Keratoderma;INTERNATIONAL JOURNAL OF HUMAN GENETICS;2021-11-25
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