Article
Phenotype and genotype features of Vietnamese children with pachyonychia congenita.
Pediatrics and neonatology - 1 Jul 2023
Chu Ha Thi, Dinh Duong Tung Anh, Le Doanh Huu, Le Thieu Van, Nguyen Binh Bui, Dang Chuc Van, Vu Quang Van
Abstract excerpt
BACKGROUND: Pachyonychia congenita (PC) is a group of autosomal dominant disorders caused by mutations in one of five keratin genes (KRT6A, KRT6B, KRT6C, KRT16, or KRT17). PC is an extremely rare condition. To our knowledge, this is the largest genotype-phenotype study of PC in a Vietnamese population to date. MATERIALS AND METHODS: We investigated keratin gene mutations and clinical features of seven Vietnamese...
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