Article
A novel variant in the GJB6 gene in a large Chinese family with a unique phenotype of Clouston syndrome.
Frontiers of medicine - 1 Apr 2023
Huang Hequn, Chen Mengyun, Liu Xia, Xiong Xixi, Zhou Lanbo, Su Zhonglan, Lu Yan, Liang Bo
Abstract excerpt
Clouston syndrome (OMIM #129500), also known as hidrotic ectodermal dysplasia type 2, is a rare autosomal dominant skin disorder. To date, four mutations in the GJB6 gene, G11R, V37E, A88V, and D50N, have been confirmed to cause this condition. In previous studies, the focus has been mainly on gene sequencing, and there has been a lack of research on clinical manifestations and pathogenesis. To confirm the...
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