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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Detaylı Bibliyografya
Yayımlandı:Cerebellum Ataxias
Asıl Yazarlar: Hickey, Chelsea L., Sherman, Janet C., Goldenberg, Paula, Kritzer, Amy, Caruso, Paul, Schmahmann, Jeremy D., Colvin, Mary K.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2018
Konular:
Research
Online Erişim: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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