Article
A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia.
Journal of the European Academy of Dermatology and Venereology : JEADV - 1 Aug 2016
Yang R, Hu Zl, Kong Qt, Li Ww, Zhang Ll, Du X, Huang Sy, Xia Xy, Sang H
Abstract excerpt
BACKGROUND: Hidrotic ectodermal dysplasia (HED), also named as Clouston syndrome, is a rare autosomal dominant disease. Mutations in GJB6, GJB2 and GJA1 are related to HED. OBJECTIVE: Summarize the clinical feature and analyse the mutation of the GJB6 gene in a large Chinese family with HED. METHODS: We collected a very large Chinese family with HED. Clinical information was analysed. Blood samples were obtained....
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