A novel nonsense ATP2C1 mutation causes Hailey-Hailey disease in a Tunisian family

A novel nonsense ATP2C1 mutation causes Hailey-Hailey disease in a Tunisian family

Background: Hailey-Hailey disease (HHD) is an autosomal dominant blistering skin disorder that manifests in the third to fourth decade of life. The ATP2C1 has been identified as the pathogenic gene of this disease since 2000. Materials and Methods: We report here a three generations Tunisian pedi...

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Bibliographic Details
Main Authors: Marwa Chourabi, Dorra H’mida-Ben Brahim, Carine Bonnard, Amina Aounallah, Alvin Yu Ng, Sumanty Tohari, Byrappa Venkatesh, Ali Saad, Lobna Boussofara, Bruno Reversade, Mohamed Denguezli
Format: Article
Language:English
Published: Our Dermatology Online 2018-04-01
Series:Nasza Dermatologia Online
Subjects:
ATP2C1
Hailey-Hailey disease
Online Access:http://www.odermatol.com/issue-in-html/2018-2-1-hailey-hailey/

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http://www.odermatol.com/issue-in-html/2018-2-1-hailey-hailey/

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