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Sleep, Respiration and Nocturnal Paroxysmal Events in Joubert Syndrome: A Case Report

INTRODUCTION: Joubert syndrome is a rare disorder, characterized by a complex midbrain malformation caused by defects in the structure and/or function of the primary cilium. CASE REPORT: A 15-year-old boy with mild intellectual disability, hypotonia, mild ataxia, and abnormal eye movements diagnosed...

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Detalles Bibliográficos
Autor principal: Peraita-Adrados, Rosa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9427012/
https://www.ncbi.nlm.nih.gov/pubmed/36052101
http://dx.doi.org/10.2147/NSS.S369097