Article
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene.
Nature - 25 Jul 1991
Dietz H C, Cutting G R, Pyeritz R E, Maslen C L, Sakai L Y, Corson G M, Puffenberger E G, Hamosh A, Nanthakumar E J, Curristin S M
Abstract excerpt
Marfan syndrome is an inherited disorder of connective tissue manifested in the ocular, skeletal and cardiovascular systems. It is inherited as an autosomal dominant with high penetrance, but has great clinical variability. Linkage studies have mapped the Marfan locus to chromosome 15q15-21.3. There have been no reports of genetic heterogeneity in the syndrome. Following the identification of fibrillin (a...
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