Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect

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...

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Détails bibliographiques
Publié dans:Proc Natl Acad Sci U S A
Auteurs principaux: 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.
Format: Artigo
Langue:Inglês
Publié: National Academy of Sciences 2016
Sujets:
PNAS Plus
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4780618/
https://ncbi.nlm.nih.gov/pubmed/26884178
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1519444113
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