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Autosomal Recessive Spinocerebellar Ataxia 20: Report of a New Patient and Review of Literature

Inherited ataxias are an extremely heterogeneous group of disorders. Autosomal recessive spinocerebellar ataxia 20 (SCAR20) is a recently described disorder characterized by intellectual disability, ataxia, coarse facial features, progressive loss of Purkinje cells in the cerebellum and often hearin...

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Detalhes bibliográficos
Publicado no:Eur J Med Genet
Main Authors: Shukla, Anju, Upadhyai, Priyanka, Shah, Jhanvi, K, Neethukrishna, Bielas, Stephanie, KM, Girisha
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5241222/
https://ncbi.nlm.nih.gov/pubmed/27913285
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ejmg.2016.11.006
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