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- Title
Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.
- Authors
Loeys, B; Nuytinck, L; Delvaux, I; De Bie, S; De Paepe, A
- Abstract
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.
- Publication
Archives of internal medicine, 2001, Vol 161, Issue 20, p2447
- ISSN
0003-9926
- Publication type
Journal Article
- DOI
10.1001/archinte.161.20.2447