A recurrent p.M157R mutation of keratin 9 gene in a Chinese family with epidermolytic palmoplantar keratoderma and literature review
Author:
Affiliation:
1. Department of Dermatology; Nanfang Hospital; Southern Medical University; Guangzhou Guangdong 510515 China
Publisher
Wiley
Subject
Dermatology
Reference46 articles.
1. Identification of the keratin 9 (KRT9) N161S mutation in a Chinese kindred with epidermolytic palmoplantar keratoderma;Feng;Eur J Dermatol,2008
2. Vorner type palmoplantar keratoderma: novel KRT9 mutation associated with knuckle pad-like lesions and recurrent mutation causing digital mutilation;Umegaki;Br J Dermatol,2011
3. Knuckle pads, in an epidermal palmoplantar keratoderma patient with Keratin 9 R163W transgrediens expression;Codispoti;Eur J Dermatol,2009
4. A novel mutation of the keratin 9 gene in a Chinese family with epidermolytic palmoplantar keratoderma;Wang;Int J Dermatol,2010
5. A novel keratin 9 gene mutation (Met156Arg) in a Japanese patient with epidermolytic palmoplantar keratoderma;Shimazu;Int J Dermatol,2006
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1. Identification of a Novel KRT9 Frameshift Mutation in a Chinese Pedigree with Epidermolytic Palmoplantar Keratoderma;INTERNATIONAL JOURNAL OF HUMAN GENETICS;2021-11-25
2. Keratin 9L164P mutation in a Chinese pedigree with epidermolytic palmoplantar keratoderma, cytokeratin analysis, and literature review;Molecular Genetics & Genomic Medicine;2019-09-16
3. Exome sequencing identifies a KRT9 pathogenic variant in a Chinese pedigree with epidermolytic palmoplantar keratoderma;Molecular Genetics & Genomic Medicine;2019-05-09
4. Genetic Analysis of KRT9 Gene Revealed Previously Known Mutations and Genotype-Phenotype Correlations in Epidermolytic Palmoplantar Keratoderma;Frontiers in Genetics;2019-01-07
5. Mutations in the highly conserved 1A rod domain of keratin 9 responsible for epidermolytic palmoplantar keratoderma in four Chinese families;The Journal of Dermatology;2017-10-17
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