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

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

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 the first weeks or months after birth. Pathogenesis...

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Bibliographic Details
Main Authors: Yuwei Li, Lili Tang, Yang Han, Liyun Zheng, Qi Zhen, Sen Yang, Min Gao
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-01-01
Series:Frontiers in Genetics
Subjects:
epidermolytic palmoplantar keratoderma
gene mutation
hot spot
KRT9 gene
knuckle pads
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2018.00645/full

Internet

https://www.frontiersin.org/article/10.3389/fgene.2018.00645/full

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