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Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial marfan syndrome phenotype

โœ Scribed by Cheryl Black; Anne P. Withers; Jonathon R. Gray; Allan B. Bridges; Ashley Craig; David U. Baty; Dr. Maureen Boxer


Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
291 KB
Volume
11
Category
Article
ISSN
1059-7794

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## Communicated by Jurgen Horst Marfan syndrome (MFS) is an autosomal-dominant disorder of the fibrous connective tissue that is typically caused by mutations in the gene coding for fibrillin-1 (FBN1), a major component of extracellular microfibrils. The clinical spectrum of MFS is highly variable