Article
Identification of a novel DDB2 mutation in a Chinese Han family with Xeroderma pigmentosum group E:a case report and literature review.
BMC medical genetics - 30 Mar 2020
Yang Rui, Kong Qingtao, Duan Yuanyuan, Li Weiwei, Sang Hong
Abstract excerpt
BACKGROUND: 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 are generally not diagnosed until they are adults due to a later onset of skin alterations. CASE PRESENTATION: We report a case of a 28-year-old Chinese woman with freckle-like hyperpigmented...
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