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Article

Body Region Dysmorphology Is Predictive of Genetic Diagnoses in Infants With Congenital Heart Disease.

Molecular genetics & genomic medicine - 1 Jul 2026

Helm Benjamin M, Wetherill Leah, Landis Benjamin J, Ware Stephanie M

Abstract excerpt

BACKGROUND: Genetic causes of congenital heart disease (CHD) are often underrecognized, though precision phenotyping may improve screening for genetic disorders. We demonstrate how body region dysmorphology predicts genetic diagnoses associated with CHD. METHODS: We used a test-negative case-control study of CHD infants undergoing standardized genetics evaluations. We investigated correlations between body region...

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Identifiers

PMID: 42394256
DOI: 10.1002/mgg3.70260
PMCID: PMC13329115

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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