Linked Life Data

10090557

Source:http://linkedlifedata.com/resource/pubmed/id/10090557

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1999-5-5
pubmed:abstractText
An infant with neonatal Marfan syndrome is described who presented with arachnodactyly, distinctive dysmorphic features and prolapse of both atrioventricular valves and dilatation of both the aortic and pulmonary root. She died in cardiac failure shortly after pacemaker implantation, due to dysrhythmia and severe mitral insufficiency. At autopsy, apart from myxomatous changes of the valves and dilated aortic and pulmonary roots, an aneurysm of the sinus of Valsalva of the pulmonary valve and abnormal myxomatous connective tissue surrounding the AV node were also found. Molecular genetic studies showed a point mutation in the fibrillin 1 gene that creates a new N-glycosylation site, which has been described once before.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
0803-5253
pubmed:author
pubmed:issnType
Print
pubmed:volume
88
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
98-101
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1999
pubmed:articleTitle
Clinical, pathological and molecular genetic findings in a case of neonatal Marfan syndrome.
pubmed:affiliation
Department of Cardiology, Wilhelmina Children's Hospital/University Hospital, Utrecht, The Netherlands.
pubmed:publicationType
Journal Article, Case Reports