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...
Main Authors: | , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Wiley
2019-07-01
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Series: | Molecular Genetics & Genomic Medicine |
Subjects: | |
Online Access: | https://doi.org/10.1002/mgg3.703 |