Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene

Marfan syndrome is a dominantly inherited connective tissue disorder with a wide range of phenotypic severity. The condition is the result of mutations in FBN1, a large gene composed of 65 exons encoding the fibrillin‐1 protein. While mutations causing classic manifestations of Marfan syndrome have...

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