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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Principais autores:	Yuwei Li, Lili Tang, Yang Han, Liyun Zheng, Qi Zhen, Sen Yang, Min Gao
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Frontiers Media S.A. 2019-01-01
coleção:	Frontiers in Genetics
Assuntos:	epidermolytic palmoplantar keratoderma gene mutation hot spot KRT9 gene knuckle pads
Acesso em linha:	https://www.frontiersin.org/article/10.3389/fgene.2018.00645/full
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