Listar INIBIC-ICATC - Artigos por autor "Gómez-Doblas, Juan José"

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    • 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 ...