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...

Descripción completa

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

Internet

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

Ejemplares similares