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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Detalhes bibliográficos
Publicado no: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 em: BioMed Central 2018
Assuntos:
Research
Acesso em linha: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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