Article
Recent progress towards a molecular understanding of Marfan syndrome.
American journal of medical genetics. Part C, Seminars in medical genetics - 15 Nov 2005
Dietz Harry C, Loeys Bart, Carta Luca, Ramirez Francesco
Abstract excerpt
Marfan syndrome (MFS) is a systemic disorder of the connective tissue that is inherited as an autosomal dominant trait and which displays variable manifestations in the ocular, skeletal, and cardiovascular systems. These pleiotropic manifestations are accounted for by mutations in fibrillin-1, the building block of extracellular microfibrils. During the past 10 years, we have witnessed significant progress in...
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