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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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Detalhes bibliográficos
Main Authors: Gill, Harjinder, Muthusamy, Brinda, Atan, Denize, Williams, Cathy, Ellis, Matthew
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi Publishing Corporation 2011
Assuntos:
Acesso em linha: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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