Keratin 9L164P mutation in a Chinese pedigree with epidermolytic palmoplantar keratoderma, cytokeratin analysis, and literature review
Author:
Affiliation:
1. Department of Clinical Genetics Shengjing Hospital of China Medical University Shenyang China
2. Department of Orthopaedics Shengjing Hospital of China Medical University Shenyang China
Funder
National Natural Science Foundation of China
Publisher
Wiley
Subject
Genetics(clinical),Genetics,Molecular Biology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.977
Reference27 articles.
1. Prenatal diagnosis of epidermolytic palmoplantar keratoderma caused by c.T470C (p.M157T) of the keratin 9 gene in a Chinese kindred
2. Mutation of keratin 9 (R163W) in a family with epidermolytic palmoplantar keratoderma and knuckle pads
3. Knuckle pads, in an epidermal palmoplantar keratoderma patient with Keratin 9 R163W transgrediens expression;Codispoti A.;European Journal of Dermatology,2009
4. A novel mutation within the 2B rod domain of keratin 9 in a Chinese pedigree with epidermolytic palmoplantar keratoderma combined with knuckle pads and camptodactyly;Du Z.‐F.;European Journal of Dermatology,2011
5. Keratin 9 Is Required for the Structural Integrity and Terminal Differentiation of the Palmoplantar Epidermis
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