Identification and characterization of novel elastin gene mutations in eleven families with supravalvular aortic stenosis

Background: Supravalvular aortic stenosis (SVAS) is a rare congenital heart disease affecting approximately 1 in 25,000 live births. In some patients it is accompanied by pulmonary artery stenosis, particularly of pulmonary artery branches. Chronic stenosis can lead to cardiac hypertrophy and even c...

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Detalles Bibliográficos
Autores principales: Zhou, Jianrong, Wu, Yueheng, Xu, Xiaoli, Zhang, Yong, Zhang, Xiong, Chen, Haisheng, Zhuang, Jian, Chen, Jimei, Teng, Yun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9742416/
https://www.ncbi.nlm.nih.gov/pubmed/36518217
http://dx.doi.org/10.3389/fgene.2022.1059640

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