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

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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Bibliographic Details
Main Authors: Jianrong Zhou, Yueheng Wu, Xiaoli Xu, Yong Zhang, Xiong Zhang, Haisheng Chen, Jian Zhuang, Jimei Chen, Yun Teng
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-11-01
Series:Frontiers in Genetics
Subjects:
ELN
supravalvular aortic stenosis
whole-exome sequencing
gene mutation
premature stop codons
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.1059640/full

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https://www.frontiersin.org/articles/10.3389/fgene.2022.1059640/full

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