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PRPS1 Gene Mutation Causes Complex X-Linked Adult-Onset Cerebellar Ataxia in Women
Neurology Genetics ( IF 3.0 ) Pub Date : 2021-04-01 , DOI: 10.1212/nxg.0000000000000563 Flávio M. Rezende Filho 1 , Mariana M. Palma 1 , José Luiz Pedroso 1 , Orlando G. Barsottini 1 , Juliana M. Sallum 1
中文翻译：
PRPS1基因突变导致复杂的X连锁的成年女性小脑共济失调。
更新日期：2021-02-04
Neurology Genetics ( IF 3.0 ) Pub Date : 2021-04-01 , DOI: 10.1212/nxg.0000000000000563 Flávio M. Rezende Filho 1 , Mariana M. Palma 1 , José Luiz Pedroso 1 , Orlando G. Barsottini 1 , Juliana M. Sallum 1
Affiliation
Inherited retinal dystrophies (IRD) comprise a heterogeneous group of disorders that affect visual function. IRD occur in isolated forms or in association with systemic abnormalities.1 Over 300 disease-causing genes have been identified in IRD.
中文翻译：
PRPS1基因突变导致复杂的X连锁的成年女性小脑共济失调。
遗传性视网膜营养不良（IRD）包括影响视觉功能的多种异质性疾病。IRD以孤立形式出现或与全身异常有关。1在IRD中已识别出300多种致病基因。
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