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Article

Genetic Diagnosis and the Severity of Cardiovascular Phenotype in Patients With Elastin Arteriopathy.

Circulation. Genomic and precision medicine - 1 Dec 2020

Min Sandar, Kinnear Caroline, D'Alessandro Lisa C A, Bouwmeester Jade, Yao Roderick, Chiasson David, Keeley Fred, Mital Seema

Abstract excerpt

BACKGROUND: Elastin insufficiency causes recurrent vascular stenoses. Hemizygous deletion of the elastin gene (ELN) causes Williams-Beuren syndrome (WBS), while single nucleotide variants in ELN cause nonsyndromic supravalvar aortic stenosis (SVAS). Our objective was to compare cardiovascular disease outcomes in patients with WBS and nonsyndromic SVAS. METHODS: Patients (81 WBS, 42 nonsyndromic SVAS) with...

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Identifiers

PMID: 32960096
DOI: 10.1161/CIRCGEN.120.002971
PMCID: PMC7748044

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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