Keratin 9 L164P mutation in a Chinese pedigree with epidermolytic palmoplantar keratoderma, cytokeratin analysis, and literature review

BACKGROUND: Epidermolytic palmoplantar keratoderma (EPPK) is characterized by hyperkeratotic lesions on palms and soles. The disorder is caused by mutations of keratin 9 (KRT9) or KRT1 gene. METHODS: Epidermolytic palmoplantar keratoderma was diagnosed by physical examination and histopathological a...

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Bibliografiske detaljer
Udgivet i:Mol Genet Genomic Med
Main Authors: Liu, Xiaoliang, Qiu, Chuang, He, Rong, Zhang, Yuanyuan, Zhao, Yanyan
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2019
Fag:
Original Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6825865/
https://ncbi.nlm.nih.gov/pubmed/31525823
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.977
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