A de novo pathogenic variant in DHX30 gene in a fetus with isolated dysgenesis of the corpus callosum

Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1. 1Expanding the Clinical Spectrum of DHX30 ‐Related Neurodevelopmental Disorder: A Case Report and a Scoping Review2026
2. 2Child Neurology: Clinical and Imaging Findings in a Child With <i>DHX37</i> Gene Variant2025
3. 3Prenatal and Postnatal Diagnosis and Genetic Background of Corpus Callosum Malformations and Neonatal Follow-Up2024 · 5 citations
4. 4Exome Sequencing Resolving a Complex Pediatric Neurodevelopmental Disorder After Inconclusive Prenatal Testing: A Case Report2026
5. 5A large cohort study of prenatal exome sequencing redefines diagnosis in fetal corpus callosum anomalies2025