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

Abstract 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...

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Bibliografische Detailangaben

Hauptverfasser:	Changxing Li, Pingjiao Chen, Silong Sun, Kang Zeng, Jingyao Liang, Qi Wang, Sanquan Zhang, Meinian Xu, Zhijia Li, Xibao Zhang
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	Wiley 2019-07-01
Schriftenreihe:	Molecular Genetics & Genomic Medicine
Schlagworte:	epidermolytic palmoplantar keratoderma exome sequencing Keratin 9
Online-Zugang:	https://doi.org/10.1002/mgg3.703
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