Marfan syndrome. Part 1: pathophysiology and diagnosis


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 glycoprotein that is the main constituent of the microfibrils of the extracellular matrix. Most mutations are unique and affect a single amino acid of the protein. Reduced or abnormal… (More)
DOI: 10.1038/nrcardio.2010.30


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