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Joubert Syndrome Presenting with Motor Delay and Oculomotor Apraxia

We describe two sisters who presented in early childhood with motor delay and unusual eye movements. Both demonstrated hypotonia and poor visual attention. The older girl at 14 weeks of age showed fine pendular horizontal nystagmus more pronounced on lateral gaze, but despite investigation with cran...

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Hlavní autoři: Gill, Harjinder, Muthusamy, Brinda, Atan, Denize, Williams, Cathy, Ellis, Matthew
Médium: Artigo
Jazyk:Inglês
Vydáno: Hindawi Publishing Corporation 2011
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3350021/
https://ncbi.nlm.nih.gov/pubmed/22606509
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2011/262641
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