Rare Copy Number Variants Identify Novel Genes in Sporadic Total Anomalous Pulmonary Vein Connection

Abstract excerpt

Total anomalous pulmonary venous connection (TAPVC) is characterized as a rare cyanotic congenital heart defect (CHD). Several genes have been associated with TAPVC but the underlying etiology and mechanisms in most cases remain elusive. To search novel variants and candidate genes, we screened a cohort of 78 TAPVC cases and 100 controls for rare copy number variants (CNV). Then we identified pathogenic CNVs by...

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