Phenotype and genotype features of Vietnamese children with pachyonychia congenita

• Príomhchruthaitheoirí: Ha Thi Chu (Údar), Tung Anh Dinh Duong (Údar), Doanh Huu Le (Údar), Thieu Van Le (Údar), Binh Bui Nguyen (Údar), Chuc Van Dang (Údar), Quang Van Vu (Údar)
• Formáid: LEABHAR
• Foilsithe / Cruthaithe: Elsevier, 2023-07-01T00:00:00Z.
• Ábhair: article
• Rochtain ar líne: Connect to this object online.

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 populati...