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Curr Opin Genet Dev. 2007 Jun;17(3):252-8. Epub 2007 Apr 27.

Marfan syndrome: from molecular pathogenesis to clinical treatment.

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Child Health Institute of New Jersey, Robert W. Johnson Medical School, 89 French Street, New Brunswick, NJ 08901, USA. [corrected]

Erratum in

  • Curr Opin Genet Dev. 2007 Aug;17(4):367.


Marfan syndrome is a connective tissue disorder with ocular, musculoskeletal and cardiovascular manifestations that are caused by mutations in fibrillin-1, the major constituent of extracellular microfibrils. Mouse models of Marfan syndrome have revealed that fibrillin-1 mutations perturb local TGFbeta signaling, in addition to impairing tissue integrity. This discovery has led to the identification of a new syndrome with overlapping Marfan syndrome-like manifestations that is caused by mutations in TGFbeta receptor types I and II. It has also prompted the idea that TGFbeta antagonism will be a productive treatment strategy in Marfan syndrome and perhaps in other related disorders. More generally, these studies have established that Marfan syndrome is part of a group of developmental disorders with broad and complex effects on morphogenesis, homeostasis and organ function.

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