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Joubert syndrome labeled as hypotonic cerebral palsy

Joubert syndrome (JS) is a rare autosomal recessive disorder with cerebellar vermis hypoplasia and complex brainstem malformation. The diagnosis of cases can be difficult as the presentation can be similar to cases of cerebral palsy. We present a case of JS in an 18-month-old girl who presented to p...

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Detalhes bibliográficos
Publicado no:Neurosciences (Riyadh)
Main Authors: Dekair, Lubna H., Kamel, Hussein, El-Bashir, Haitham O.
Formato: Artigo
Idioma:Inglês
Publicado em: Riyadh : Armed Forces Hospital 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4727659/
https://ncbi.nlm.nih.gov/pubmed/24983287
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