Novel germline ERCC5 mutations identified in a xeroderma pigmentosum complementation group G pedigree

Tao Wang; Chen-Chen Xu; Xi-Ping Zhou; Jonathan J Lee; Jun Shen; Bill Q Lian; Yue-Hua Liu; Christine Guo Lian

doi:10.1016/j.jdcr.2014.12.004

Novel germline ERCC5 mutations identified in a xeroderma pigmentosum complementation group G pedigree

JAAD Case Rep. 2015 Mar 5;1(2):66-70. doi: 10.1016/j.jdcr.2014.12.004. eCollection 2015 Mar.

Authors

Tao Wang¹, Chen-Chen Xu¹, Xi-Ping Zhou¹, Jonathan J Lee², Jun Shen³, Bill Q Lian⁴, Yue-Hua Liu¹, Christine Guo Lian²

Affiliations

¹ Department of Dermatology, Peking Union Medical College Hospital, Peking Union Medical College & Chinese Academy of Medical Sciences, Beijing, China.
² Program in Dermatopathology, Department of Pathology, Brigham & Women's Hospital, Harvard Medical School, Boston, Massachusetts.
³ Partners Personalized Medicine, Department of Pathology, Brigham & Women's Hospital, Harvard Medical School, Boston, Massachusetts.
⁴ Department of Medicine, University of Massachusetts Memorial Medical Center, Worcester, Massachusetts.

No abstract available

Keywords: CS, Cockayne syndrome; ERCC5; ERCC5, Excision Repair Cross-complementing Rodent Repair Deficiency Complementation Group 5 gene; Excision Repair Cross-complementing Rodent Repair Deficiency Complementation Group 5 gene; NER, Nucleotide excision repair; UV, Ultraviolet; WES, Whole exome sequencing; XP, Xeroderma pigmentosum; XP-G, Xeroderma pigmentosum complementation group G; nucleotide excision repair; whole exome sequencing; xeroderma pigmentosum complementation group G.

Publication types

Case Reports