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Ataxia, hyperpnoea and mental retardation: was it the molar tooth?
Joubert’s syndrome is a rare autosomal recessive disease, which is under-diagnosed, associated with other brain and body malformations, and carries a poor prognosis. We describe a 6-year-old boy who presented with non-progressive instability of stance and gait, mental retardation and a new onset of...
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| 主要な著者: | , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BMJ Publishing Group
2010
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3047379/ https://ncbi.nlm.nih.gov/pubmed/22736556 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr.10.2009.2331 |
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