Molecular genetic mechanisms of congenital heart disease.

Abstract excerpt

Congenital heart disease (CHD) affects ~1% of all live births, but a definitive etiology is identified in only ~50%. The causes include chromosomal aneuploidies and copy-number variations, pathogenic variation in single genes, and exposure to environmental factors. High-throughput sequencing of large CHD patient cohorts and continued expansion of the complex molecular regulation of cardiac morphogenesis has...

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