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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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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Dove
2022
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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 |