Whole exome sequencing in patients with Williams-Beuren syndrome followed by disease modeling in mice points to four novel pathways that may modify stenosis risk.
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DOI: 10.1093/hmg/ddaa093
Abstract: Supravalvular aortic stenosis (SVAS) is a narrowing of the aorta caused by elastin (ELN) haploinsufficiency. SVAS severity varies among patients with Williams Beuren syndrome (WBS), a rare disorder that removes one copy of ELN and… read more here.
Keywords: beuren syndrome; patients williams; svas; stenosis ... See more keywords