Neurobehavioral Signatures in Overgrowth Intellectual Disability Syndromes: Dissecting Genotype-Phenotype Relationships in the PI3K-AKT-MTOR Pathway
Aaron D. Besterman, Gerhard Hellemann, Irma Gutierrez-Mejia, Dzung C. Nguyen, Joshua Sadik, Veronica Gandara, Jonathan Adam Bernstein, Thomas William Frazier, Antonio Y. Hardan, Charis Eng, Mustafa Şahin, Julián A. Martínez-Agosto
The paper compares neurobehavioral profiles of Smith-Kingsmore Syndrome and PTEN Hamartoma Tumor Syndrome, identifying distinct features and diagnostic markers.
medRxiv · Aug 19, 2025 · PreprintGenetic & Genomic Medicine