A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotype

BACKGROUND: Neurodevelopmental disorders (NDDs) are heterogeneous, debilitating conditions that include motor and cognitive disability and social deficits. The genetic factors underlying the complex phenotype of NDDs remain to be elucidated. Accumulating evidence suggest that the Elongator complex p...

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Detalles Bibliográficos
Autores principales: Kojic, Marija, Abbassi, Nour E. H., Lin, Ting-Yu, Jones, Alun, Wakeling, Emma L., Clement, Emma, Nakou, Vasiliki, Singleton, Matthew, Dobosz, Dominika, Kaliakatsos, Marios, Glatt, Sebastian, Wainwright, Brandon J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Nature Singapore 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10290953/
https://www.ncbi.nlm.nih.gov/pubmed/36864284
http://dx.doi.org/10.1038/s10038-023-01135-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10290953/
https://www.ncbi.nlm.nih.gov/pubmed/36864284
http://dx.doi.org/10.1038/s10038-023-01135-3

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