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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Publicat a:Proc Natl Acad Sci U S A
Autors principals: 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
Idioma:Inglês
Publicat: National Academy of Sciences 2016
Matèries:
PNAS Plus
Accés en línia: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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