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Neurobehavioral Signatures in Overgrowth Intellectual Disability Syndromes: Dissecting Genotype-Phenotype Relationships in the PI3K-AKT-MTOR Pathway

2025-08-24

Abstract excerpt

<h4>ABSTRACT</h4> Overgrowth intellectual disability syndromes (OGIDs) caused by mutations in the PI3K-AKT-MTOR pathway present significant neurobehavioral challenges. While PTEN Hamartoma Tumor Syndrome (PHTS) has been behaviorally characterized, Smith-Kingsmore Syndrome (SKS) has not, limiting our understanding of shared and unique features across OGIDs. We conducted comprehensive neurobehavioral assessments in...

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Literature Corpus work: 0b0246c2-8a85-5eff-82a9-98735d81f9c5
DOI: 10.1101/2025.08.19.25333388

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