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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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Detalhes bibliográficos
Publicado no:Front Genet
Main Authors: Li, Yuwei, Tang, Lili, Han, Yang, Zheng, Liyun, Zhen, Qi, Yang, Sen, Gao, Min
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6330350/
https://ncbi.nlm.nih.gov/pubmed/30666268
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2018.00645
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