The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome.
Víctor Manuel Becerra-MuñozJuan José Gómez-DoblasCarlos Porras-MartínMiguel Such-MartínezMaría Generosa Crespo-LeiroRoberto Barriales-VillaEduardo de Teresa-GalvánManuel F Jiménez-NavarroFernando Cabrera-BuenoPublished in: Orphanet journal of rare diseases (2018)
Patients with MFS and truncating variants in FBN-1 presented a higher proportion of aortic events, compared to a more benign course in patients with missense mutations. Genetic findings could, therefore, have importance not only in the diagnosis, but also in risk stratification and clinical management of patients with suspected MFS.