Article
Generalized Hailey-Hailey disease: Novel splice-site mutations of ATP2C1 gene in Chinese population and a literature review.
Molecular genetics & genomic medicine - 1 Feb 2021
Yang Lu, Zhang Qianli, Zhang Shiyu, Liu Yuehua, Liu Yaping, Wang Tao
Abstract excerpt
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 secretory pathway Ca2+ /Mn2+ -ATPase (SPCA1). Skin folds are the predilection site of HHD. Atypical cases with a...
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