Article
Phenotypic discordance in monozygotic twins with a CDH2 variant.
European journal of medical genetics - 1 May 2026
Hansman Laura, Galan-Cadena Jose, Bartlett Victoria, Goldring Georgina, Mitchell Tim, Mittag Dana, Prosnitz Aaron, Macaya Daniela, Baker Elizabeth K
Abstract excerpt
Monoallelic pathogenic variants consistent with Mendelian inheritance patterns causing congenital heart disease (CHD) have been increasingly identified as genetic testing, including genome sequencing (GS), has become more widely available within the clinical space. Here, we focus on a newly described pathogenic variant in CDH2 resulting in Agenesis of Corpus Callosum (ACC), Cardiac, Ocular, and Genital Syndrome...
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