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Clinical utility of a next generation sequencing panel assay for Marfan and Marfan‐like syndromes featuring aortopathy

5 May 2015

Abstract excerpt

Aortopathy can be defined as aortic dilation, aneurysm, dissection, and tortuosity. Familial aortopathy may occur secondary to fibrillin-1 (FBN1) mutations in the setting of Marfan syndrome, or may occur as a result of other genetic defects with different, but occasionally overlapping, phenotypes. Because of the phenotypic overlap and genetic heterogeneity of disorders featuring aortopathy, we developed a next...

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PMID: 25944730
DOI: 10.1002/ajmg.a.37085

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