Source:http://linkedlifedata.com/resource/pubmed/id/14761782
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
1
|
| pubmed:dateCreated |
2004-2-5
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| pubmed:abstractText |
Carvajal syndrome is a familial cardiocutaneous syndrome consisting of woolly hair, palmoplantar keratoderma, and heart disease. It is caused by a recessive deletion mutation in desmoplakin, an intracellular protein that links desmosomal adhesion molecules to intermediate filaments of the cytoskeleton. The pathology of Carvajal syndrome has not been described.
|
| pubmed:grant | |
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
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| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:issn |
1054-8807
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| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
13
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
26-32
|
| pubmed:dateRevised |
2007-11-14
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| pubmed:meshHeading |
pubmed-meshheading:14761782-Arrhythmogenic Right Ventricular Dysplasia,
pubmed-meshheading:14761782-Cardiomegaly,
pubmed-meshheading:14761782-Child,
pubmed-meshheading:14761782-Cytoskeletal Proteins,
pubmed-meshheading:14761782-Desmoplakins,
pubmed-meshheading:14761782-Female,
pubmed-meshheading:14761782-Fibrosis,
pubmed-meshheading:14761782-Humans,
pubmed-meshheading:14761782-Immunohistochemistry,
pubmed-meshheading:14761782-Mutation,
pubmed-meshheading:14761782-gamma Catenin
|
| pubmed:articleTitle |
Structural and molecular pathology of the heart in Carvajal syndrome.
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| pubmed:affiliation |
Department of Pathology and the Center for Cardiovascular Research, Washington University School of Medicine, Box 8118, 660 South Euclid Avenue, St. Louis, MO 63110, USA.
|
| pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Case Reports,
Research Support, Non-U.S. Gov't
|