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. 2021 May 15;13(5):4281–4295.

Figure 2.

Figure 2

Pathogenic/likely pathogenic mutations identified in 10 genes. A: Gene distribution of pathogenic/likely pathogenic mutations; B: Pathogenic/likely pathogenic mutations in sporadic TAAD and familial TAAD. One mutation of FBN1 was identified in both unrelated probands from the aforementioned two cohorts; C: Pathogenic/likely pathogenic mutations in syndromic TAAD and non-syndromic TAAD. One mutation of FBN1 was identified in both unrelated probands from the aforementioned two cohorts. P/LP: pathogenic or likely pathogenic, VUS: variant of uncertain significance, sporadic TAAD: sporadic thoracic aortic aneurysm or dissection, familial TAAD: familial thoracic aortic aneurysm or dissection, syndromic TAAD: syndromic thoracic aortic aneurysm or dissection, nonsyndromic TAAD: nonsyndromic thoracic aortic aneurysm or dissection.