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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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| Publicado no: | Eur J Med Genet |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2016
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| 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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