Exome sequencing identifies a KRT9 pathogenic variant in a Chinese pedigree with epidermolytic palmoplantar keratoderma

BACKGROUND: Epidermolytic palmoplantar keratoderma (EPPK) is a rare skin disorder and its pathogenesis and inheritability are unknown. OBJECTIVE: To investigate the inheritance and pathogenesis of EPPK. METHODS: Two EPPK cases occurred in a three‐generation Chinese family. Patient–parents trio EPPK...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Li, Changxing, Chen, Pingjiao, Sun, Silong, Zeng, Kang, Liang, Jingyao, Wang, Qi, Zhang, Sanquan, Xu, Meinian, Li, Zhijia, Zhang, Xibao
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
Assuntos:
Clinical Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6625362/
https://ncbi.nlm.nih.gov/pubmed/31074163
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.703
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