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Other genomic disorders and congenital heart disease

7 Jan 2020

Abstract excerpt

Congenital heart disease (CHD) is the common birth defect worldwide. Despite its recognized burden on public health, the etiology in the vast majority of individuals remains unknown. Chromosomal abnormality plays an important role, frequently observed as large cytogenetically visible rearrangement or small submicroscopic structural variation in the genome. Several genomic disorders are now recognized that are...

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PMID: 31909881
DOI: 10.1002/ajmg.c.31762

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