Rare Copy Number Variants Identify Novel Genes in Sporadic Total Anomalous Pulmonary Vein Connection

Rare Copy Number Variants Identify Novel Genes in Sporadic Total Anomalous Pulmonary Vein Connection

Total anomalous pulmonary venous connection (TAPVC) is a rare congenital heart anomaly. Several genes have been associated TAPVC but the mechanisms remain elusive. To search novel CNVs and candidate genes, we screened a cohort of 78 TAPVC cases and 100 healthy controls for rare copy number variants...

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Bibliographic Details
Main Authors: Xin Shi, Liangping Cheng, XianTing Jiao, Bo Chen, Zixiong Li, Yulai Liang, Wei Liu, Jing Wang, Gang Liu, Yuejuan Xu, Jing Sun, Qihua Fu, Yanan Lu, Sun Chen
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-11-01
Series:Frontiers in Genetics
Subjects:
congenital heart defects
total anomalous pulmonary venous connection
whole-exome sequencing
copy number variants
pathogenesis
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2018.00559/full

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https://www.frontiersin.org/article/10.3389/fgene.2018.00559/full

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