Mutation analysis of the KRT9 gene in a family with epidermolytic palmoplantar keratoderma

Autor: Yongfeng YAO, Zhijie LUO, Zeqiao ZHANG, Fang YANG

Publikováno v: Pifu-xingbing zhenliaoxue zazhi, Vol 30, Iss 5, Pp 417-421 (2023)

Objective To investigate the pedigree and gene mutation of a family of patient with epidermolytic palmoplantar keratoderma (EPPK). Methods Clinical data were collected, and DNA samples were extracted from affected individuals and her parents. Whole-e

Externí odkaz: https://doaj.org/article/406aedb5d4f346429ed64514e606e5a6

一个表皮松解性掌跖角化症家系的 KRT9 基因 突变研究.

Autor: 姚勇丰^1,2, 骆志杰^1,3, 张泽乔⁴, 阳芳^1,2 yangfang3013@126.com

Publikováno v: Journal of Diagnosis & Therapy on Dermato-venereology. Oct2023, Vol. 30 Issue 5, p417-421. 5p.

Cohen syndrome coincident with epidermolytic palmoplantar keratoderma caused by novel KRT9 gene mutation: A rare case report.

Autor: Shu Y; Department of Psychiatry, The Second People's Hospital of Guizhou Province, Guiyang, 550004, China. Electronic address: shuyanping2023@163.com., Hou Y; Department of Psychiatry, The Second People's Hospital of Guizhou Province, Guiyang, 550004, China., Zhang Q; Department of Radiology, The Second People's Hospital of Guizhou Province, Guiyang, 550004, China.

Publikováno v: Asian journal of surgery [Asian J Surg] 2023 Dec; Vol. 46 (12), pp. 5909-5910. Date of Electronic Publication: 2023 Sep 09.

Genetic Analysis of KRT9 Gene Revealed Previously Known Mutations and Genotype-Phenotype Correlations in Epidermolytic Palmoplantar Keratoderma

Autor: Yuwei Li, Lili Tang, Yang Han, Liyun Zheng, Qi Zhen, Sen Yang, Min Gao

Publikováno v: Frontiers in Genetics, Vol 9 (2019)

Epidermolytic palmoplantar keratoderma (EPPK, OMIM 144200) is an autosomal dominant inherited disease, clinically characterized by diffuse yellowish thickening of the skin on the palms and soles, usually with erythematous borders developing during th

Externí odkaz: https://doaj.org/article/e481e9a3557c417aa4f3f862d92d0e03

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