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Article

TBX20 loss-of-function mutation responsible for familial tetralogy of Fallot or sporadic persistent truncus arteriosus.

International journal of medical sciences - 1 Jan 2017

Huang Ri-Tai, Wang Juan, Xue Song, Qiu Xing-Biao, Shi Hong-Yu, Li Ruo-Gu, Qu Xin-Kai, Yang Xiao-Xiao, Liu Hua, Li Ning, Li Yan-Jie, Xu Ying-Jia, Yang Yi-Qing

Abstract excerpt

Congenital heart disease (CHD), the most common form of developmental abnormality in humans, remains a leading cause of morbidity and mortality in neonates. Genetic defects have been recognized as the predominant causes of CHD. Nevertheless, CHD is of substantial genetic heterogeneity and the genetic defects underlying CHD in most cases remain unclear. In the current study, the coding regions and splicing...

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Share to GATA4 Transcription Factor
Share to Heart Defects, Congenital

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heart Septal Defects, Atrial

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Share to Homeobox Protein Nkx-2.5

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Source

Open in PubMed Open full text

Identifiers

PMID: 28553164
DOI: 10.7150/ijms.17834
PMCID: PMC5436474

Genes

TBX20
GATA4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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