Ocular manifestations of xeroderma pigmentosum: long term follow-up highlights the role of DNA repair in protection from sun damage

OBJECTIVE: Xeroderma pigmentosum (XP) is a rare autosomal recessive disease caused by mutations in DNA repair genes. Clinical manifestations of XP include mild to extreme sensitivity to ultraviolet radiation resulting in inflammation and neoplasia in sun-exposed areas of the skin, mucous membranes,...

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Détails bibliographiques
Auteurs principaux: Brooks, Brian P, Thompson, Amy H, Bishop, Rachel J, Clayton, Janine A, Chan, Chi-Chao, Tsilou, Ekaterini T, Zein, Wadih M, Tamura, Deborah, Khan, Sikandar G., Ueda, Takahiro, Boyle, Jennifer, Oh, Kyu-Seon, Imoto, Kyoko, Inui, Hiroki, Moriwaki, Shin-Ichi, Emmert, Steffen, Iliff, Nicholas T., Bradford, Porcia, DiGiovanna, John J., Kraemer, Kenneth H
Format: Artigo
Langue:Inglês
Publié: 2013
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3702678/
https://ncbi.nlm.nih.gov/pubmed/23601806
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ophtha.2012.12.044
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