Article
The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome.
Orphanet journal of rare diseases - 22 Jan 2018
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
Abstract excerpt
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 establish the genotype-phenotype correlation, with particular interest in the onset of aortic events, in a broad...
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