Genetics of marfan syndrome and loeys-dietz syndrome

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Abstract

Marfan syndrome (MFS) and Loeys-Dietz syndrome (LDS) are two clinically related aortic aneurysm conditions. LDS shows significant clinical overlap with MFS as regards its vascular and skeletal features, including aortic root aneurysm, arachnodactyly, scoliosis, and pectus deformity. In this chapter, we will review the current knowledge of the genetic basis of both disorders.

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Verstraeten, A., & Loeys, B. (2019). Genetics of marfan syndrome and loeys-dietz syndrome. In Surgical Management of Aortic Pathology: Current Fundamentals for the Clinical Management of Aortic Disease (pp. 561–566). Springer International Publishing. https://doi.org/10.1007/978-3-7091-4874-7_38

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