Neurologic, Neuropsychologic, and Neuroradiologic Features of EBF3-Related Syndrome

BACKGROUND AND OBJECTIVES: Heterozygous mutations or deletions of the EBF3 gene are known to cause a syndrome characterized by intellectual disability, neurodevelopmental disorders, facial dysmorphisms, hypotonia, and ataxia; the latter is quite common despite in most patients brain MRI is reported...

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Detalles Bibliográficos
Autores principales: Ciaccio, Claudia, Pantaleoni, Chiara, Moscatelli, Marco, Chiapparini, Luisa, Nigro, Vincenzo, Valente, Enza Maria, Sciacca, Francesca, Canafoglia, Laura, Bulgheroni, Sara, D'Arrigo, Stefano
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2023
Materias:
RESEARCH Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10117703/
https://www.ncbi.nlm.nih.gov/pubmed/37090941
http://dx.doi.org/10.1212/NXG.0000000000200049

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10117703/
https://www.ncbi.nlm.nih.gov/pubmed/37090941
http://dx.doi.org/10.1212/NXG.0000000000200049

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