Unexpected Occurrence of Xeroderma Pigmentosum in an Uncle and Nephew

BACKGROUND: Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by a decreased ability to repair DNA damaged by UV radiation and the early development of cutaneous and ocular malignant neoplasms. Approximately 20% of patients with XP also develop progressive neurologic de...

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Главные авторы: Christen-Zaech, Stéphanie, Imoto, Kyoko, Khan, Sikandar G., Oh, Kyu-Seon, Tamura, Deborah, DiGiovanna, John J., Boyle, Jennifer, Patronas, Nickolas J., Schiffmann, Raphael, Kraemer, Kenneth H., Paller, Amy S.
Формат: Artigo
Язык:Inglês
Опубликовано: 2009
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Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC3472955/
https://ncbi.nlm.nih.gov/pubmed/19917958
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/archdermatol.2009.279
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