Generalized Hailey–Hailey disease: Novel splice‐site mutations of ATP2C1 gene in Chinese population and a literature review

Abstract Background Hailey–Hailey disease (HHD; OMIM: 169600) is an autosomal dominate genodermatosis, characterized by recurrent blisters and erosions clinically and remarkable acantholysis pathologically. The underlying pathogenic factor is the mutation of ATP2C1 gene (OMIM: 604384), which encodes...

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Bibliographic Details
Main Authors: Lu Yang, Qianli Zhang, Shiyu Zhang, Yuehua Liu, Yaping Liu, Tao Wang
Format: Article
Language:English
Published: Wiley 2021-02-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Online Access:https://doi.org/10.1002/mgg3.1580