Genetic & Genomic MedicinemedRxivPreprint
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…·Julián A. Martínez-Agosto
The paper compares neurobehavioral profiles of Smith-Kingsmore Syndrome and PTEN Hamartoma Tumor Syndrome, identifying distinct features and diagnostic markers.