Cortical Visual Impairment in CDKL5 Deficiency Disorder

BACKGROUND: CDKL5 deficiency disorder (CDD) is a developmental encephalopathy caused by pathogenic variants in the gene cyclin-dependent kinase-like 5. Cerebral visual impairment (CVI) is frequent in patients with CDD. In addition to being recognized as a specific feature of the pathology, it has be...

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Detalles Bibliográficos
Autores principales: Quintiliani, Michela, Ricci, Daniela, Petrianni, Maria, Leone, Simona, Orazi, Lorenzo, Amore, Filippo, Gambardella, Maria Luigia, Contaldo, Ilaria, Veredice, Chiara, Perulli, Marco, Musto, Elisa, Mercuri, Eugenio Maria, Battaglia, Domenica Immacolata
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8825365/
https://www.ncbi.nlm.nih.gov/pubmed/35153983
http://dx.doi.org/10.3389/fneur.2021.805745

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8825365/
https://www.ncbi.nlm.nih.gov/pubmed/35153983
http://dx.doi.org/10.3389/fneur.2021.805745

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