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Joubert syndrome: congenital cerebellar ataxia with the “molar tooth”

Joubert syndrome (JS) is a congenital cerebellar ataxia with autosomal recessive or X-linked inheritance, which diagnostic hallmark is a unique cerebellar and brainstem malformation recognizable on brain imaging, the “molar tooth sign”. Neurological signs are present from neonatal age and include hy...

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Autores principales: Romani, Marta, Micalizzi, Alessia, Valente, Enza Maria
Formato: Artigo
Lenguaje:Inglês
Publicado: 2013
Materias:
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3809058/
https://ncbi.nlm.nih.gov/pubmed/23870701
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/S1474-4422(13)70136-4
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