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Visual Function in Children with GNAO1-Related Encephalopathy

Background: GNAO1-related encephalopathies include a broad spectrum of developmental disorders caused by de novo heterozygous mutations in the GNAO1 gene, encoding the G (o) subunit α of G-proteins. These conditions are characterized by epilepsy, movement disorders and developmental impairment, in c...

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Detalles Bibliográficos
Autores principales: Gambardella, Maria Luigia, Pede, Elisa, Orazi, Lorenzo, Leone, Simona, Quintiliani, Michela, Amorelli, Giulia Maria, Petrianni, Maria, Galanti, Marta, Amore, Filippo, Musto, Elisa, Perulli, Marco, Contaldo, Ilaria, Veredice, Chiara, Mercuri, Eugenio Maria, Battaglia, Domenica Immacolata, Ricci, Daniela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10047968/
https://www.ncbi.nlm.nih.gov/pubmed/36980817
http://dx.doi.org/10.3390/genes14030544

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