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A Newly Discovered Genetic Disorder Associated With Life-Threatening Aortic Disease in a 6-Year-Old Boy

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Aortic aneurysms in children are rare and when present are usually caused by a connective tissue disorder. In this article, we present a case of multiple aortic aneurysms in an… Click to show full abstract

Aortic aneurysms in children are rare and when present are usually caused by a connective tissue disorder. In this article, we present a case of multiple aortic aneurysms in an adolescent with a novel finding of a gene variation that is associated with aortic disease.

Keywords: discovered genetic; disorder; newly discovered; aortic disease; genetic disorder

Journal Title: Journal of Investigative Medicine High Impact Case Reports
Year Published: 2020

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