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Article

A novel NR2F2 loss-of-function mutation predisposes to congenital heart defect.

European journal of medical genetics - 1 Apr 2018

Qiao Xiao-Hui, Wang Qian, Wang Juan, Liu Xing-Yuan, Xu Ying-Jia, Huang Ri-Tai, Xue Song, Li Yan-Jie, Zhang Min, Qu Xin-Kai, Li Ruo-Gu, Qiu Xing-Biao, Yang Yi-Qing

Abstract excerpt

Congenital heart defect (CHD) is the most common type of birth defect in humans and a leading cause of infant morbidity and mortality. Previous studies have demonstrated that genetic defects play a pivotal role in the pathogenesis of CHD. However, the genetic basis of CHD remains poorly understood due to substantial genetic heterogeneity. In this study, the coding exons and splicing boundaries of the NR2F2 gene,...

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Identifiers

PMID: 29222010
DOI: 10.1016/j.ejmg.2017.12.003

Genes

GATA4

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