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Understanding of the genetics of thoracic aortic aneurysm is increasing rapidly, due to discovery of novel genes, better definition of the phenotypes associated with mutations in a given gene and better understanding of the pathophysiology. Beyond Marfan syndrome, usually related to mutation in FBN1, mutations have been reported in TGFBR1, TGFBR2, ACTA2, MYH11, and SMAD3. All are transmitted as dominant...
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