TY  - JOUR
AU  - Becerra-Muñoz, Víctor Manuel
AU  - Gómez-Doblas, Juan José
AU  - Porras-Martín, Carlos
AU  - Such-Martínez, Miguel
AU  - Crespo-Leiro, María Generosa
AU  - Barriales-Villa, Roberto
AU  - de Teresa-Galván, Eduardo
AU  - Jiménez-Navarro, Manuel
AU  - Cabrera-Bueno, Fernando
PY  - 2018
DO  - 10.1186/s13023-017-0754-6
UR  - http://hdl.handle.net/10668/12035
T2  - Orphanet journal of rare diseases
AB  - 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 than 90% of MFS cases. The aim of our study was to...
LA  - en
KW  - Ascending aortic aneurysm
KW  - FBN-1
KW  - Genetic testing
KW  - Hereditary aortopathy
KW  - Marfan syndrome
KW  - Type a dissection
KW  - Adolescent
KW  - Adult
KW  - Child
KW  - Child, Preschool
KW  - Echocardiography
KW  - Female
KW  - Fibrillin-1
KW  - Genetic Association Studies
KW  - Genetic Testing
KW  - Genotype
KW  - Humans
KW  - Male
KW  - Marfan Syndrome
KW  - Mutation
KW  - Phenotype
KW  - Prospective Studies
KW  - Young Adult
TI  - The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome.
TY  - research article
VL  - 13
ER  -