Access
To read this article in full you may need to log in, make a payment or gain access through a site license (see right).
Letter
Nature Genetics 33, 407–411 (1 March 2003) | doi:10.1038/ng1116
Dysregulation of TGF-|[beta]| activation contributes to pathogenesis in Marfan syndrome
&
Abstract
Marfan syndrome is an autosomal dominant disorder of connective tissue caused by mutations in fibrillin-1 (encoded by FBN1 in humans and Fbn1 in mice), a matrix component of extracellular microfibrils. A distinct subgroup of individuals with Marfan syndrome have distal airspace enlargement, historically described as emphysema, which frequently results in spontaneous lung rupture (pneumothorax; refs.
To read this article in full you may need to log in, make a payment or gain access through a site license (see right).
