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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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Detalles Bibliográficos
Autores principales: Li, Yuwei, Tang, Lili, Han, Yang, Zheng, Liyun, Zhen, Qi, Yang, Sen, Gao, Min
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6330350/
https://www.ncbi.nlm.nih.gov/pubmed/30666268
http://dx.doi.org/10.3389/fgene.2018.00645