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...

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Publicado en:Neurol Genet
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: Artigo
Lenguaje:Inglês
Publicado: Wolters Kluwer 2020
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7371369/
https://ncbi.nlm.nih.gov/pubmed/32802948
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000482
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