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Article

Unexpected occurrence of xeroderma pigmentosum in an uncle and nephew.

Archives of dermatology - 1 Nov 2009

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

Abstract excerpt

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 degeneration. OBSERVATIONS: We describe a boy who was found to have XP after a severe burn following minimal sun...

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Identifiers

PMID: 19917958
DOI: 10.1001/archdermatol.2009.279
PMCID: PMC3472955

Genes

XPA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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