The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome

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 than 90% of MFS cases. The aim of our study was to summarise variants in FBN-1 and estab...

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Detalles Bibliográficos
Autores principales: Becerra-Muñoz, Víctor Manuel, Gómez-Doblas, Juan José, Porras-Martín, Carlos, Such-Martínez, Miguel, Crespo-Leiro, María Generosa, Barriales-Villa, Roberto, de Teresa-Galván, Eduardo, Jiménez-Navarro, Manuel, Cabrera-Bueno, Fernando
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5778633/
https://www.ncbi.nlm.nih.gov/pubmed/29357934
http://dx.doi.org/10.1186/s13023-017-0754-6

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