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

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 study sho...

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Bibliografiset tiedot
Julkaisussa:J Transl Med
Päätekijät: Hong, Nanchao, Zhang, Erge, Wang, Qingjie, Zhang, Xiaoqing, Li, Fen, Fu, Qihua, Xu, Rang, Yu, Yu, Chen, Sun, Xu, Yuejuan, Sun, Kun
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BioMed Central 2018
Aiheet:
Research
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC6151064/
https://ncbi.nlm.nih.gov/pubmed/30241482
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12967-018-1633-1
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