Article
Genotype impacts survival in Marfan syndrome.
European heart journal - 14 Nov 2016
Franken Romy, Groenink Maarten, de Waard Vivian, Feenstra Helena M A, Scholte Arthur J, van den Berg Maarten P, Pals Gerard, Zwinderman Aeilko H, Timmermans Janneke, Mulder Barbara J M
Abstract excerpt
AIMS: The aorta in Marfan syndrome (MFS) patients is variably affected. We investigated the assumed genotype-effect on protein production as a risk factor for a severe aortic phenotype in adult MFS patients. METHODS AND RESULTS: We collected clinical and genetic data from all 570 adults with MFS who had been included in the Dutch CONgenital CORvitia registry since the start in 2001. Mean age was 36.5 ± 13.5 years...
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