Marfan syndrome is an autosomal dominant connective tissue disease with an estimated
incidence of 1 in 5000 individuals. In 90% of cases it is caused by mutations in the gene for …

Marfan syndrome is a connective-tissue disease inherited in an autosomal dominant
manner and caused mainly by mutations in the gene FBN1. This gene encodes fibrillin-1, a …

Marfan syndrome is an autosomal dominant disorder of the connective tissues, with mutation
on the fibrillin-1 gene encoding for fibrillin, a major component of the extracellular …

Marfan syndrome (MFS), a relatively common autosomal dominant hereditary disorder of
connective tissue with prominent manifestations in the skeletal, ocular, and cardiovascular …

Marfan syndrome (MFS) is a disease in which connective tissue becomes weak secondary
to fibrillin-1 mutations, resulting in aortic dilatation, aneurysm formation, aortic dissection …

OBJECTIVE: Marfan syndrome is a systemic connective tissue disorder caused by mutations
in the fibrillin-1 gene. It was originally believed that Marfan syndrome results exclusively …

Marfan syndrome has changed over the last few years: new diagnostic criteria have been
proposed, new clinical entities recognised and life expectancy increased. The role of fibrillin …

Marfan syndrome is a heritable disorder of the connective tissue with an estimated
prevalence of 1 in 5000 individuals and no predilection for either sex. The syndrome is …

Marfan syndrome (MFS) is an autosomal dominant genetic disorder caused by mutations in
the fibrillin-1 gene. Acute aortic dissection is the leading cause of death in patients suffering …

who has some but not enough features for a clinical diagnosis and no or an uncertain family
history, molecular analysis is of minimal help. The real benefit of DNA analysis arises when …