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Article

A novel mutation in the ATP2C1 gene is associated with Hailey-Hailey disease in a Chinese family.

International journal of dermatology - 1 Jan 2009

Liu Jiang Zhou, Liu Zhou Jiang, Yang Tao, Li Xiuchao, Liu Mugen, Wang Qing Kenneth, Liu Jing Yu

Abstract excerpt

BACKGROUND: A three-generation Chinese family with Hailey-Hailey disease (HHD) was identified and characterized. The proband developed HHD with severe recurrent blisters and crusted erosions involving the body folds. Skin biopsy studies showed epidermal hyperkeratosis and defects in cell-to-cell adhesion. Three other members in the family were also affected with HHD and had the same clinical manifestations. The...

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Identifiers

PMID: 19126050
DOI: 10.1111/j.1365-4632.2009.03878.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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