A loss-of-function mutation p.T52S in RIPPLY3 is a potential predisposing genetic risk factor for Chinese Han conotruncal heart defect patients without the 22q11.2 deletion/duplication

A loss-of-function mutation p.T52S in RIPPLY3 is a potential predisposing genetic risk factor for Chinese Han conotruncal heart defect patients without the 22q11.2 deletion/duplication

Abstract Background Conotruncal heart defect (CTD) is a complex congenital heart disease with a complex and poorly understood etiology. The transcriptional corepressor RIPPLY3 plays a pivotal role in heart development as a negative regulator of the key cardiac transcription factor TBX1. A previous s...

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Bibliographic Details
Main Authors: Nanchao Hong, Erge Zhang, Qingjie Wang, Xiaoqing Zhang, Fen Li, Qihua Fu, Rang Xu, Yu Yu, Sun Chen, Yuejuan Xu, Kun Sun
Format: Article
Language:English
Published: BMC 2018-09-01
Series:Journal of Translational Medicine
Subjects:
Conotruncal heart defect
RIPPLY3
Target sequencing
TBX1
Online Access:http://link.springer.com/article/10.1186/s12967-018-1633-1

Internet

http://link.springer.com/article/10.1186/s12967-018-1633-1

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