Fig. 4: Risk chart for genetic counseling of patients with heterozygous FBN1 pathogenic variants. | Genetics in Medicine

Fig. 4: Risk chart for genetic counseling of patients with heterozygous FBN1 pathogenic variants.

From: Clinical relevance of genotype–phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants

Fig. 4

Percentage of patients with aortic event by the age of 40 to 80 years, ectopia lentis, scoliosis >20° according to their variant groups. Risk levels are illustrated by different colors (red: very high risk, orange: high risk, yellow: intermediate risk, and green: low risk). PTC premature termination codon.

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