A c.3037G>A mutation in FBN1 gene causing Marfan syndrome with an atypically severe phenotype
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Marfan syndrome is a pleiotropic connective tissue disease inherited as an autosomal dominant trait, mostly caused by mutations in the FBN1 gene, which is located on chromosome 15q21.1 and encoding fibrillin 1. We report a case of Marfan syndrome presenting wi... ...
