Article
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.
Proceedings of the National Academy of Sciences of the United States of America - 1 Mar 2016
Fassihi Hiva, Sethi Mieran, Fawcett Heather, Wing Jonathan, Chandler Natalie, Mohammed Shehla, Craythorne Emma, Morley Ana M S, Lim Rongxuan, Turner Sally, Henshaw Tanya, Garrood Isabel, Giunti Paola, Hedderly Tammy, Abiona Adesoji, Naik Harsha, Harrop Gemma, McGibbon David, Jaspers Nicolaas G J, Botta Elena, Nardo Tiziana, Stefanini Miria, Young Antony R, Sarkany Robert P E, Lehmann Alan R
Abstract excerpt
Xeroderma pigmentosum (XP) is a rare DNA repair disorder characterized by increased susceptibility to UV radiation (UVR)-induced skin pigmentation, skin cancers, ocular surface disease, and, in some patients, sunburn and neurological degeneration. Genetically, it is assigned to eight complementation groups (XP-A to -G and variant). For the last 5 y, the UK national multidisciplinary XP service has provided...
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