Anesthetic Considerations for Patients With Williams Syndrome.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of cardiothoracic and vascular anesthesia"
DOI: 10.1053/j.jvca.2020.01.022
Abstract: Williams syndrome (WS) is a relatively rare congenital disorder which manifests across multiple organ systems with a wide spectrum of severity. Cardiovascular anomalies are the most common and concerning manifestations of WS, with supravalvar aortic… read more here.
Keywords: considerations patients; patients williams; anesthesia; anesthetic considerations ... See more keywords
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.
Sign Up to like & getrecommendations! Published in 2020 at "Human molecular genetics"
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