Unexpected Occurrence of Xeroderma Pigmentosum in an Uncle and Nephew | Zendy

Stéphanie ChristenZaech | Zendy; Kyoko Imoto | Zendy; Sikandar G. Khan | Zendy; KyuSeon Oh | Zendy; Deborah Tamura | Zendy; John J. DiGiovanna | Zendy; Jennifer Boyle | Zendy; Nickolas J. Patronas | Zendy; Raphael Schiffmann | Zendy; Kenneth H. Kraemer | Zendy; Amy S. Paller | Zendy

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Unexpected Occurrence of Xeroderma Pigmentosum in an Uncle and Nephew

Author(s) -

Stéphanie ChristenZaech,

Kyoko Imoto,

Sikandar G. Khan,

KyuSeon Oh,

Deborah Tamura,

John J. DiGiovanna,

Jennifer Boyle,

Nickolas J. Patronas,

Raphael Schiffmann,

Kenneth H. Kraemer,

Amy S. Paller

Publication year - 2009

Publication title -

archives of dermatology

Language(s) - English

Resource type - Journals

eISSN - 1538-3652

pISSN - 0003-987X

DOI - 10.1001/archdermatol.2009.279

Subject(s) - xeroderma pigmentosum , medicine , dermatology , sunburn , frameshift mutation , genetics , pediatrics , dna repair , gene , mutation , biology

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.

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