Prenatal diagnosis of epidermolytic palmoplantar keratoderma caused by c.T470C (p.M157T) of the keratin 9 gene in a Chinese kindred
Author:
Funder
National Natural Science Foundation of China
Publisher
Wiley
Subject
Genetics (clinical),Obstetrics and Gynecology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/pd.2315/fullpdf
Reference14 articles.
1. Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland;Covello;J Invest Dermatol,1998
2. Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes;Cummins;J Invest Dermatol,2001
3. Prenatal diagnosis for severe inherited skin disorders: 25 years' experience;Fassihi;Br J Dermatol,2006
4. The common KRT9 gene mutation in a Japanese patient with epidermolytic palmoplantar keratoderma and knuckle pad-like keratoses;Hamada;J Dermatol,2005
5. Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita;Leachman;J Dermatol Sci,2008
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1. Keratin 9L164P mutation in a Chinese pedigree with epidermolytic palmoplantar keratoderma, cytokeratin analysis, and literature review;Molecular Genetics & Genomic Medicine;2019-09-16
2. Genetic Analysis of KRT9 Gene Revealed Previously Known Mutations and Genotype-Phenotype Correlations in Epidermolytic Palmoplantar Keratoderma;Frontiers in Genetics;2019-01-07
3. Identification of a Novel Keratin 9 Missense Mutation in a Chinese Family with Epidermolytic Palmoplantar Keratoderma;Cellular Physiology and Biochemistry;2018
4. KRT9 gene mutation as a reliable indicator in the prenatal molecular diagnosis of epidermolytic palmoplantar keratoderma;Gene;2014-08
5. A recurrent p.M157R mutation of keratin 9 gene in a Chinese family with epidermolytic palmoplantar keratoderma and literature review;International Journal of Dermatology;2014-06-05
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