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
Publicado en:Cerebellum Ataxias
Main Authors: Hickey, Chelsea L., Sherman, Janet C., Goldenberg, Paula, Kritzer, Amy, Caruso, Paul, Schmahmann, Jeremy D., Colvin, Mary K.
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2018
Assuntos:
Research
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5861599/
https://ncbi.nlm.nih.gov/pubmed/29568536
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40673-018-0085-y
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