Affiliation: | 1. Program for the Study of Neurodevelopment in Rare Disorders, Pittsburgh, PA, USA;2. Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA;3. Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil;4. Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Brazil;5. Shire Human Genetic Therapies, Eysins, Switzerland;6. Department of Pediatrics, University of Padova, Centre for Rare Disorders, Padova, Italy |