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Clinical features of ataxia with oculoapraxia type 2 in China

2023-06-08

Abstract excerpt

<h4>Background: </h4> Ataxia with oculomotor apraxia type 2 (AOA2) is very rare in China. This study aims to report on a Chinese girl with AOA2, and summarize the characteristics of Chinese AOA2 patients previously reported. <h4>Methods: </h4>: We compiled a series of seven previously reported and one novel ataxic patients who underwent senataxin gene ( SETX ) sequencing because of suspected AOA2. The clinical an...

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Literature Corpus work
d2bbda3b-17c2-57a8-98a2-98d69457e02a
DOI
10.21203/rs.3.rs-3020669/v1
Open publication

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Clinical features of ataxia with oculoapraxia type 2 in ChinaDOI 10.21203/rs.3.rs-3020669/v1
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