Article

Pathway analysis identifies novel non-synonymous variants contributing to extreme vascular outcomes in Williams-Beuren syndrome

2022-09-22

Abstract excerpt

Supravalvar aortic stenosis (SVAS) is a characteristic feature of Williams-Beuren syndrome (WBS). SVAS is present in 67% of those with WBS, but severity varies; 21% have clinically significant SVAS requiring surgical intervention while 33% have no appreciable aortic disease. Little is known about genetic modifiers outside the 7q11.23 region that might contribute to SVAS severity. To investigate, we collaboratively...

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Literature Corpus work: 2479c5f5-b5a8-557f-9607-59b631276dd1
DOI: 10.1101/2022.09.21.22280107

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