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Article Abstract
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11046616 | PMC |
| http://dx.doi.org/10.7861/clinmed.23-6-s36 | DOI Listing |
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Anomalies of the corpus callosum (AnCC) are congenital malformations associated with highly variable neurodevelopmental outcomes. We performed prenatal Exome Sequencing (pES) on a cohort of 352 fetuses diagnosed with AnCC, analyzing the diagnostic yield, the implicated genes based on the type of anomaly (partial or complete agenesis, short corpus callosum, or callosal dysgenesis) and assessing the impact on pregnancy outcomes. The overall diagnostic yield of pES was 23%, with pathogenic or likely pathogenic variants identified in 49 different genes, most of which linked to intellectual developmental disorders.
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