Items for "fibrillin-1 (FBN1)"

Marfan Syndrome A Diagnostic Challenge Caused by Phenotypic and Genetic Heterogeneity

Objectives: Marfan syndrome (MFS) is an autosomal dominant inherited connective tissue disorder caused by mutations in the fibrillin-1 (FBN1) gene with variable clinical manifestations in the cardiovascular, musculoskeletal and ocular systems. Methods: Data of molecular genetic analysis and a catalogue of clinical manifestations including aortic elastic parameters were mined in order to (i) assess aortic abnormality before and during medical treatment, and to (ii) identify novel correlations between the genotype and phenotype of the disease using hierarchical cluster analysis and logistic regression analysis...

Keywords: Marfan syndrome, fibrillin-1 (FBN1), aortic elasticity, phenotype-genotype correlation, Data Mining