GTF2I dosage regulates neuronal differentiation and social behavior in 7q11.23 neurodevelopmental disorders

Copy number variations at 7q11.23 cause neurodevelopmental disorders with shared and opposite manifestations. Deletion causes Williams-Beuren syndrome featuring hypersociability, while duplication causes 7q11.23 microduplication syndrome (7Dup), frequently exhibiting autism spectrum disorder (ASD)....

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Detalles Bibliográficos
Autores principales: López-Tobón, Alejandro, Shyti, Reinald, Villa, Carlo Emanuele, Cheroni, Cristina, Fuentes-Bravo, Patricio, Trattaro, Sebastiano, Caporale, Nicolò, Troglio, Flavia, Tenderini, Erika, Mihailovich, Marija, Skaros, Adrianos, Gibson, William T., Cuomo, Alessandro, Bonaldi, Tiziana, Mercurio, Ciro, Varasi, Mario, Osborne, Lucy, Testa, Giuseppe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Association for the Advancement of Science 2023
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10686562/
https://www.ncbi.nlm.nih.gov/pubmed/38019906
http://dx.doi.org/10.1126/sciadv.adh2726

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10686562/
https://www.ncbi.nlm.nih.gov/pubmed/38019906
http://dx.doi.org/10.1126/sciadv.adh2726

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