Genetic & Genomic MedicinemedRxivPreprint
Detailed Clinical and Functional Studies of New MTOR Variants in Smith-Kingsmore Syndrome Reveal Deficits of Circadian and Sleep Homeostasis
Andrew C. Liu, Yang Shen, Destino Roman…·Carlos Enrique Prada
This study identifies new MTOR variants in Smith-Kingsmore Syndrome, reveals circadian and sleep deficits, and shows rapamycin treatment can improve symptoms.
3 citations