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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
11
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pubmed:dateCreated |
2009-11-17
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pubmed:abstractText |
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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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Nov
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pubmed:issn |
1538-3652
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pubmed:author |
pubmed-author:BoyleJenniferJ,
pubmed-author:Christen-ZaechStéphanieS,
pubmed-author:DigiovannaJohn JJJ,
pubmed-author:ImotoKyokoK,
pubmed-author:KhanSikandar GSG,
pubmed-author:KraemerKenneth HKH,
pubmed-author:OhKyu-SeonKS,
pubmed-author:PallerAmy SAS,
pubmed-author:PatronasNickolas JNJ,
pubmed-author:SchiffmannRaphaelR,
pubmed-author:TamuraDeborahD
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pubmed:issnType |
Electronic
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pubmed:volume |
145
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1285-91
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pubmed:meshHeading |
pubmed-meshheading:19917958-Adolescent,
pubmed-meshheading:19917958-Central Nervous System Diseases,
pubmed-meshheading:19917958-Facial Dermatoses,
pubmed-meshheading:19917958-Genetic Predisposition to Disease,
pubmed-meshheading:19917958-Genetic Testing,
pubmed-meshheading:19917958-Humans,
pubmed-meshheading:19917958-Immunohistochemistry,
pubmed-meshheading:19917958-Incidental Findings,
pubmed-meshheading:19917958-Infant,
pubmed-meshheading:19917958-Male,
pubmed-meshheading:19917958-Mutation,
pubmed-meshheading:19917958-Pedigree,
pubmed-meshheading:19917958-Skin Diseases,
pubmed-meshheading:19917958-Sunburn,
pubmed-meshheading:19917958-Ultraviolet Rays,
pubmed-meshheading:19917958-Xeroderma Pigmentosum,
pubmed-meshheading:19917958-Xeroderma Pigmentosum Group A Protein
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pubmed:year |
2009
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pubmed:articleTitle |
Unexpected occurrence of xeroderma pigmentosum in an uncle and nephew.
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pubmed:affiliation |
Department of Dermatology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, N.I.H., Intramural
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