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

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

Abstract 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...

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Bibliographic Details
Main Authors: Rui Yang, Qingtao Kong, Yuanyuan Duan, Weiwei Li, Hong Sang
Format: Article
Language:English
Published: BMC 2020-03-01
Series:BMC Medical Genetics
Subjects:
Xeroderma pigmentosum
DDB2 gene
Novel mutation
Skin cancer
Case report
Online Access:http://link.springer.com/article/10.1186/s12881-020-00997-0

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