Cerebellar Agenesis and Bilateral Polimicrogyria Associated with Rare Variants of CUB and Sushi Multiple Domains 1 Gene (CSMD1): A Longitudinal Neuropsychological and Neuroradiological Case Study

Cerebellar agenesis is an extremely rare condition characterized by a near complete absence of the cerebellum. The pathogenesis and molecular basis remain mostly unknown. We report the neuroradiological, molecular, neuropsychological and behavioral characterization of a 5-year-old girl, with cerebel...

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Detalles Bibliográficos
Autores principales: Costanzo, Floriana, Zanni, Ginevra, Fucà, Elisa, Di Paola, Margherita, Barresi, Sabina, Travaglini, Lorena, Colafati, Giovanna Stefania, Gambardella, Antonio, Bellacchio, Emanuele, Bertini, Enrico, Menghini, Deny, Vicari, Stefano
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8835405/
https://www.ncbi.nlm.nih.gov/pubmed/35162247
http://dx.doi.org/10.3390/ijerph19031224

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8835405/
https://www.ncbi.nlm.nih.gov/pubmed/35162247
http://dx.doi.org/10.3390/ijerph19031224

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