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Fig. 3 | Orphanet Journal of Rare Diseases

Fig. 3

From: Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement

Fig. 3

Genotype–phenotype correlations. a The combined group of HI and DN Cys led to aortic involvement significantly more frequently than DN non-Cys genetic variants. b The need for aortic surgery was significantly more common for DN Cys mutations than for the other two types. c Individuals with detected mutations showed a significantly higher aortic involvement rate than individuals without an identified (likely) pathogenic variant. No difference could be observed between MFS and LDS patients

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172