Source:http://linkedlifedata.com/resource/pubmed/id/15527432
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
4
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pubmed:dateCreated |
2004-11-5
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pubmed:abstractText |
A 36-year-old woman presented with lesions on her scalp, face and trunk. Histopathological examination of these lesions demonstrated facial trichoepithelioma, and scalp cylindroma. A solitary nodule on the trunk had features of cylindroma, spiradenoma and trichoepithelioma, a previously unreported occurrence. Based on the clinical picture, the diagnosis of Brooke-Spiegler syndrome was established. Genetic studies confirmed the diagnosis, demonstrating a splice site mutation, designated 1518+2T>C, on the CYLD1 gene of chromosome 16q12-q13.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Nov
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pubmed:issn |
0004-8380
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
45
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
220-2
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:15527432-Adult,
pubmed-meshheading:15527432-Carcinoma, Adenoid Cystic,
pubmed-meshheading:15527432-Diagnosis, Differential,
pubmed-meshheading:15527432-Face,
pubmed-meshheading:15527432-Female,
pubmed-meshheading:15527432-Humans,
pubmed-meshheading:15527432-Mutation,
pubmed-meshheading:15527432-Neoplastic Syndromes, Hereditary,
pubmed-meshheading:15527432-Scalp,
pubmed-meshheading:15527432-Skin Neoplasms,
pubmed-meshheading:15527432-Tumor Suppressor Proteins
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pubmed:year |
2004
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pubmed:articleTitle |
Case of the Brooke-Spiegler syndrome.
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pubmed:affiliation |
St John's Institute of Dermatology, St Thomas' Hospital, London, UK. hoanglydr@yahoo.com
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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