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Fabrillin (FBN1) mutations in Marfan syndrome

✍ Scribed by Caroline Hayward; Marion Keston; David J. H. Brock; Harry C. Dietz


Publisher
John Wiley and Sons
Year
1992
Tongue
English
Weight
93 KB
Volume
1
Category
Article
ISSN
1059-7794

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✦ Synopsis


Marfan syndrome (MFS), a disorder of connective tissue inherited as an autosomal dominant, has been mapped to 15q2 1.1. (


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## Abstract Marfan syndrome is an autosomal dominant condition, with manifestations mainly in the skeletal, ocular, and cardiovascular systems. The disorder is caused by mutations in fibrillin‐1 gene (__FBN1__). The majority of these are family‐specific point mutations, with a small number being pr