Article
A c.3037G>A mutation in FBN1 gene causing Marfan syndrome with an atypically severe phenotype.
Investigacion clinica - 1 Mar 2017
Callea Michele, Eric Willoughby Colin, Camarata-Scalisi Francisco, Giovannoni Isabella, Vinciguerra Agatino, Yavuz Izzet, Di Stazio Mariateresa, Di Iorio Enzo, Clarich Gabriella, Benettoni Alessandra, Galeotti Angela, Bellacchio Emanuele
Abstract excerpt
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 with severe ocular and systemic manifestations, such as cardiac congenital anomalies. The patient underwent a multidisciplinary approach and his clinical...
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