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Bridget M. Kuehn

JAMA. 2005;294:1745-1746.

	Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

Modern genetic techniques are providing new insights into the pathogenesis of Marfan syndrome, a genetic disorder that can cause skeletal malformations and abnormalities of the heart and other organs. In the process, these insights are challenging long-held beliefs about the disease and related disorders and raising hope for better treatments.

Such hope counters the pessimism that accompanied the 1991 discovery that Marfan syndrome is caused by mutations in the gene that encodes fibrillin-1, a component of the extracellular matrix (Dietz et al. Nature. 1991;352:337-339). After all, defects in structural proteins throughout the body would be nearly impossible to correct.

Gene studies are providing new insights into the pathogenesis of Marfan syndrome, a genetic disorder that can result in heart abnormalities and disproportionately long digits and limbs. (Photo credit: Rick Guidotti/National Marfan Foundation)

But more recent discoveries suggest that fibrillin-1 regulates transforming growth factor- (TGF-) and . . . [Full Text of this Article]

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