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Overlap of genetic factors among craniosynostosis and autism spectrum disorder: the presence of autistic cases without craniosynostosis in carriers of shared variants

29 Mar 2025

Abstract excerpt

OBJECTIVE: A significant overlap of the risk genes respectively listed for craniosynostosis and autism was recently demonstrated in each case series. The purposes of this article were to review the clinical manifestations systemically in previously reported individual cases with the shared variants and to confirm the pleiotropic associations between genotype and phenotype. METHODS: The risk genes or loci were...

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PMID: 40153834
DOI: 10.3171/2024.12.peds24296

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