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Article

A Novel TBX1 Loss-of-Function Mutation Associated with Congenital Heart Disease.

Pediatric cardiology - 1 Oct 2015

Pan Yun, Wang Zha-Gen, Liu Xing-Yuan, Zhao Hong, Zhou Ning, Zheng Gui-Fen, Qiu Xing-Biao, Li Ruo-Gu, Yuan Fang, Shi Hong-Yu, Hou Xu-Min, Yang Yi-Qing

Abstract excerpt

Congenital heart disease (CHD) is the most prevalent type of birth defect in humans and is the leading non-infectious cause of infant death worldwide. There is a growing body of evidence demonstrating that genetic defects play an important role in the pathogenesis of CHD. However, CHD is a genetically heterogeneous disease and the genetic basis underpinning CHD in an overwhelming majority of patients remains...

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Identifiers

PMID: 25860641
DOI: 10.1007/s00246-015-1173-x

Genes

TBX1

Variants

Provenance

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