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Nature 424, 443-447 (6 July 2003) | doi:10.1038/nature01827;
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GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5
Congenital heart defects (CHDs) are the most common developmental anomaly and are the leading non-infectious cause of mortality in newborns. Only one causative gene, NKX2-5, has been identified through genetic linkage analysis of pedigrees with non-syndromic CHDs.
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