Article

Analysis of Copy Number and Sequence Variants Linked to Cardiac Development in Children with Syndromic Congenital Heart Defects

2026-04-01

Abstract excerpt

Congenital heart defects (CHDs) are the most common congenital anomalies, with identifiable genetic etiologies in approximately 5–30% of affected infants, depending on the clinical presentation and comorbidities. This study included 216 children with CHD, predominantly syndromic, to explore the role of genetic variants in their morphological phenotypes. Chromosomal microarray (CMA) and whole-exome sequencing (WES)...

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Literature Corpus work: 9b9fe3c5-df6d-52f0-a990-fa9467717f6b
DOI: 10.20944/preprints202604.0034.v1

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