Spinocerebellar Ataxia Type 29 Due to Mutations in ITPR1: a Case Series and Review of This Emerging Congenital Ataxia
Orphanet Journal of Rare Diseases（2017）
关键词
Human phenotype ontologies,Congenital non-progressive spinocerebellar ataxia,Spinocerebellar ataxia type 29,SCA29,Cerebellar atrophy,ITPR1,Clinical management
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