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Article

Performance of Dysmorphology-Based Screening for Genetic Disorders in Pediatric Congenital Heart Disease Supports Wider Genetic Testing.

Molecular genetics & genomic medicine - 1 Nov 2024

Helm Benjamin M, Helvaty Lindsey R, Conboy Erin, Geddes Gabrielle C, Graham Brett H, Lah Melissa, Wetherill Leah, Landis Benjamin J, Ware Stephanie M

Abstract excerpt

BACKGROUND: Dysmorphology evaluation is important for congenital heart disease (CHD) assessment, but there are no prior investigations quantifying the screening performance compared to standardized genetics evaluations. We investigated this through systematic dysmorphology assessment in CHD patients with standardized genetic testing in primarily pediatric patients with CHD. METHODS: Dysmorphology evaluations...

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Identifiers

PMID: 39587733
DOI: 10.1002/mgg3.70040
PMCID: PMC11588853

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