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A multicenter cross-sectional study in infants with congenital heart defects demonstrates high diagnostic yield of genetic testing but variable evaluation practices

1 Jan 2023

Abstract excerpt

Purpose For patients with congenital heart disease (CHD), the most common birth defect, genetic evaluation is not universally accepted, and current practices are anecdotal. Here, we analyzed genetic evaluation practices across centers, determined diagnostic yield of testing, and identified phenotypic features associated with abnormal results. Methods This is a multicenter cross-sectional study of 5 large...

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Identifiers

PMID: 39669248
DOI: 10.1016/j.gimo.2023.100814

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