Identification of a novel DDB2 mutation in a Chinese Han family with Xeroderma pigmentosum group E:a case report and literature review

Xeroderma pigmentosum (XP) is a rare autosomal recessive genodermatosis. There are eight complementation groups of XP (XP-A to G and a variant form). XP-E is one of the least common forms, and XP-E patients ar...

Source: BMC Medical Genetics - March 30, 2020 Category: Genetics & Stem Cells Authors: Rui Yang, Qingtao Kong, Yuanyuan Duan, Weiwei Li and Hong Sang Tags: Case report Source Type: research