AP1S2-truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency.

Address: Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.; Medical Genetics, Department of Biochemistry, Biophysics and General Pathology, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Department of Human Neurosciences, Unit of Infantile Neurology and Psychiatry, University of Rome 'La Sapienza', Rome, Italy.; Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.