Linked Life Data

9295957

Source:http://linkedlifedata.com/resource/pubmed/id/9295957

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
1997-9-25
pubmed:abstractText
Familial supravalvular aortic stenosis is a rare autosomal dominant condition. It may be distinguished from the Williams-Beuren syndrome by the absence of the characteristic dysmorphic appearances and of mental retardation. The case of a 9-year-old girl with a severe surgical stenosis led to the diagnosis of the same malformation in the mother and two brothers. This family adds to the 121 cases reported in the literature describing the main features of SVAS. Molecular biological advances have shown that familial SVAS and the Williams syndrome are due to mutation of the elastin gene located at 7q11-23. In the Williams syndrome the allele of this gene is completely absent and there is also probably deletion of contiguous genes, which explains involvement of cognitive function. In SVAS, the genetic lesion, mutation or microdeletion is more limited, explaining the usually isolated aortic malformation. Other studies are necessary to confirm these results.
pubmed:language
fre
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0003-9683
pubmed:author
pubmed:issnType
Print
pubmed:volume
90
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
719-24
pubmed:dateRevised
2009-2-13
pubmed:meshHeading
pubmed:year
1997
pubmed:articleTitle
[Familial supravalvular aortic stenosis. Investigation in a family and review of the literature].
pubmed:affiliation
Service de cardiologie infantile, hôpital d'Enfants, Vandoeuvre-lés-Nancy.
pubmed:publicationType
Journal Article, English Abstract, Review, Case Reports