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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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書目詳細資料
Main Authors: Amin, Osama S M, Shwani, Sa’ad Seud
格式: Artigo
語言:Inglês
出版: BMJ Publishing Group 2010
主題:
在線閱讀: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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