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Ataxia Oculomotor Apraxia Type 1 in the Siblings of a Family: A Novel Mutation

Although AOA1 (ataxia oculomotor apraxia1) is one of the most common causes of autosomal recessive cerebellar ataxias in Japanese population, it is reported from all over the world. The clinical manifestations are similar to ataxia telangiectasia in which non-neurological manifestations are absent a...

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Detalhes bibliográficos
Publicado no:Iran J Child Neurol
Main Authors: KARIMZADEH, Parvaneh, KHAYATZADEH KAKHKI, Simin, ESMAIL NEJAD, Shaghayegh Sadat, HOUSHMAND, Masood, GHOFRANI, Mohammad
Formato: Artigo
Idioma:Inglês
Publicado em: Shahid Beheshti University of Medical Sciences 2017
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5329765/
https://ncbi.nlm.nih.gov/pubmed/28277561
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