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Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair

19 Nov 2010

Abstract excerpt

BACKGROUND: The frequency of cancer, neurologic degeneration and mortality in xeroderma pigmentosum (XP) patients with defective DNA repair was determined in a four decade natural history study. METHODS: All 106 XP patients admitted to the National Institutes of Health from 1971 to 2009 were evaluated from clinical records and follow-up. RESULTS: In the 65 per cent (n=69) of patients with skin cancer,...

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PMID: 21097776
DOI: 10.1136/jmg.2010.083022

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