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

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 i...

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Detalles Bibliográficos
Autores principales:	Min, Sandar, Kinnear, Caroline, D’Alessandro, Lisa C.A., Bouwmeester, Jade, Yao, Roderick, Chiasson, David, Keeley, Fred, Mital, Seema
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Lippincott Williams & Wilkins 2020
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7748044/ https://www.ncbi.nlm.nih.gov/pubmed/32960096 http://dx.doi.org/10.1161/CIRCGEN.120.002971

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