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Article

Novel and functional sequence variants within the TBX2 gene promoter in ventricular septal defects.

Biochimie - 1 Sept 2013

Pang Shuchao, Liu Yumei, Zhao Zhongqing, Huang Wenhui, Chen Dongfeng, Yan Bo

Abstract excerpt

Congenital heart disease (CHD) is the most common birth defects in humans. To date, genetic causes for CHD remain largely unknown. T-box transcription factor 2 (TBX2) gene is expressed in the myocardium of atrioventricular canal, outflow tract and inflow tract and plays a critical role in heart chamber formation. Genomic deletion and duplication of TBX2 gene have been associated with cardiac defects. As TBX2 acts...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23727221
DOI: 10.1016/j.biochi.2013.05.007

Genes

TBX2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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