Listar Instituto de Investigación Biomédica da Coruña (INIBIC) por autor "Porras-Martín, Carlos"
Mostrando ítems 1-1 de 1
-
The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome
Becerra-Muñoz, Víctor Manuel; Gómez-Doblas, Juan José; Porras-Martín, Carlos; Such-Martínez, Miguel; Crespo-Leiro, María Generosa; Barriales-Vila, Roberto; Teresa-Galván, Eduardo de; Jiménez-Navarro, Manuel; Cabrera-Bueno, Fernando (Springer Nature, 2018-01-22)[Abstract] Background: Marfan syndrome (MFS) is a disorder of autosomal dominant inheritance, in which aortic root dilation is the main cause of morbidity and mortality. Fibrillin-1 (FBN-1) gene mutations are found in more ...