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rdf:type |
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lifeskim:mentions |
umls-concept:C0017337,
umls-concept:C0017431,
umls-concept:C0024796,
umls-concept:C0030705,
umls-concept:C0031437,
umls-concept:C0244756,
umls-concept:C0750491,
umls-concept:C0936012,
umls-concept:C1414542,
umls-concept:C1521991,
umls-concept:C1691010,
umls-concept:C2603343
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pubmed:issue |
20
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pubmed:dateCreated |
2001-11-8
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pubmed:abstractText |
Marfan syndrome (MFS) is an underrecognized heritable connective tissue disorder resulting from mutations in the gene for fibrillin-1 (FBN1). Affected patients are at risk for aortic dissection and/or severe ocular and orthopedic problems. The diagnosis is primarily based on a set of well-defined clinical criteria (Ghent nosology). The age-related nature of some clinical manifestations and variable phenotypic expression may hinder the diagnosis, particularly in children. Molecular analysis may be helpful to identify at-risk individuals early and start prophylactic medical treatment. FBN1 mutations have also been reported in patients with Marfan-related conditions, but it is unknown what proportion of all FBN1 mutation carriers they represent.
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Nov
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pubmed:issn |
0003-9926
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:day |
12
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pubmed:volume |
161
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
2447-54
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:11700157-Adolescent,
pubmed-meshheading:11700157-Adult,
pubmed-meshheading:11700157-Age Factors,
pubmed-meshheading:11700157-Aged,
pubmed-meshheading:11700157-Aortic Aneurysm,
pubmed-meshheading:11700157-Aortic Valve Insufficiency,
pubmed-meshheading:11700157-Aortic Valve Stenosis,
pubmed-meshheading:11700157-Child,
pubmed-meshheading:11700157-Child, Preschool,
pubmed-meshheading:11700157-DNA Mutational Analysis,
pubmed-meshheading:11700157-Ectopia Lentis,
pubmed-meshheading:11700157-Female,
pubmed-meshheading:11700157-Genotype,
pubmed-meshheading:11700157-Heterozygote,
pubmed-meshheading:11700157-Humans,
pubmed-meshheading:11700157-Incidence,
pubmed-meshheading:11700157-Male,
pubmed-meshheading:11700157-Marfan Syndrome,
pubmed-meshheading:11700157-Microfilament Proteins,
pubmed-meshheading:11700157-Middle Aged,
pubmed-meshheading:11700157-Mitral Valve Prolapse,
pubmed-meshheading:11700157-Mutation,
pubmed-meshheading:11700157-Pedigree,
pubmed-meshheading:11700157-Phenotype,
pubmed-meshheading:11700157-Risk Factors,
pubmed-meshheading:11700157-Sensitivity and Specificity,
pubmed-meshheading:11700157-Severity of Illness Index
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pubmed:year |
2001
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pubmed:articleTitle |
Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.
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pubmed:affiliation |
Centre for Medical Genetics, Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium. anne.depaepe@rug.ac.be
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Validation Studies
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