Cerebellar cognitive affective syndrome: insights from Joubert syndrome

BACKGROUND: Joubert syndrome (JS) is a rare, autosomal recessively inherited genetic disorder characterized morphologically by unique developmental malformations of the cerebellum and brainstem (the molar tooth sign), and clinically by impaired motor functions and intellectual disability. Patients w...

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Detalles Bibliográficos
Autores principales: Hickey, Chelsea L., Sherman, Janet C., Goldenberg, Paula, Kritzer, Amy, Caruso, Paul, Schmahmann, Jeremy D., Colvin, Mary K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5861599/
https://www.ncbi.nlm.nih.gov/pubmed/29568536
http://dx.doi.org/10.1186/s40673-018-0085-y

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