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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...

詳細記述

保存先:
書誌詳細
出版年:Iran J Child Neurol
主要な著者: KARIMZADEH, Parvaneh, KHAYATZADEH KAKHKI, Simin, ESMAIL NEJAD, Shaghayegh Sadat, HOUSHMAND, Masood, GHOFRANI, Mohammad
フォーマット: Artigo
言語:Inglês
出版事項: Shahid Beheshti University of Medical Sciences 2017
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5329765/
https://ncbi.nlm.nih.gov/pubmed/28277561
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