Hydrocephalus and diffuse choroid plexus hyperplasia in primary ciliary dyskinesia-related MCIDAS mutation

OBJECTIVE: To report a neuroradiologic phenotype associated with reduced generation of multiple motile cilia (RGMC) and mutations in the multicilin gene. We hypothesize that the observed phenotype may reflect the emerging role that ependymal cilia play in regulating CSF production. METHOD: Clinical...

Descripción completa

Detalles Bibliográficos
Autores principales: Robson, Evie Alexandra, Dixon, Luke, Causon, Liam, Dawes, William, Benenati, Massimo, Fassad, Mahmoud, Hirst, Robert Anthony, Kenia, Priti, Moya, Eduardo Fernandez, Patel, Mitali, Peckham, Daniel, Rutman, Andrew, Mitchison, Hannah M., Mankad, Kshitij, O'Callaghan, Christopher
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7371369/
https://www.ncbi.nlm.nih.gov/pubmed/32802948
http://dx.doi.org/10.1212/NXG.0000000000000482

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7371369/
https://www.ncbi.nlm.nih.gov/pubmed/32802948
http://dx.doi.org/10.1212/NXG.0000000000000482

Ejemplares similares