A c.3037G>A mutation in FBN1 gene causing Marfan syndrome with an atypically severe phenotype
Invest. clín; 58 (1), 2017
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 presen ting with severe ocular and systemic manifestations...