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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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| Hauptverfasser: | , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2013
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| Schlagworte: | |
| Online Zugang: | 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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