Article

Determination of the molecular basis of Marfan syndrome: a growth industry

2004-07-15

Abstract excerpt

Although it has been known for more than a decade that Marfan syndrome — a dominantly inherited connective tissue disorder characterized by tall stature, arachnodactyly, lens subluxation, and a high risk of aortic aneurysm and dissection — results from mutations in the FBN1 gene, which encodes fibrillin-1, the precise mechanism by which the pleiotropic phenotype is produced has been unclear. A report in this issue...

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Literature Corpus work: eb498210-ce45-5a31-856d-ce5bb2f6be15
DOI: 10.1172/jci200422399

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