Source:http://linkedlifedata.com/resource/pubmed/id/16981219
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
11
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pubmed:dateCreated |
2006-11-6
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pubmed:abstractText |
Loeys-Dietz syndrome is a recently described autosomal dominant disorder with cardinal manifestations in cardiovascular, craniofacial and skeletal systems. Although the disease has some phenotypic overlap with Marfan syndrome, the disease, that is caused by mutations in the transforming growth factor beta-receptor 1 (TGFBR1) or transforming growth factor beta-receptor 2 (TGFBR2) genes, presents many distinctive features and a particularly aggressive cardiovascular course. We describe prenatal identification of an aortic root aneurysm in a fetus of 19 week of gestation as an early marker of Loeys-Dietz syndrome.
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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 |
0197-3851
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
26
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1081-3
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pubmed:dateRevised |
2007-11-15
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pubmed:meshHeading |
pubmed-meshheading:16981219-Abnormalities, Multiple,
pubmed-meshheading:16981219-Aortic Aneurysm, Thoracic,
pubmed-meshheading:16981219-Craniofacial Abnormalities,
pubmed-meshheading:16981219-Female,
pubmed-meshheading:16981219-Humans,
pubmed-meshheading:16981219-Infant,
pubmed-meshheading:16981219-Mouth Abnormalities,
pubmed-meshheading:16981219-Mutation,
pubmed-meshheading:16981219-Pregnancy,
pubmed-meshheading:16981219-Prenatal Diagnosis,
pubmed-meshheading:16981219-Protein-Serine-Threonine Kinases,
pubmed-meshheading:16981219-Receptors, Transforming Growth Factor beta
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pubmed:year |
2006
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pubmed:articleTitle |
Fetal aortic root dilation: a prenatal feature of the Loeys-Dietz syndrome.
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pubmed:affiliation |
Human Genetics Department, Galliera Hospital, Genova, Italy. valeria.viassolo@galliera.it
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pubmed:publicationType |
Journal Article,
Case Reports
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