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Rare occurrence of severe blindness and deafness in Friedreich ataxia: a case report
BACKGROUND: Friedreich ataxia is the most frequent hereditary ataxia worldwide. Subclinical visual and auditory involvement has been recognized in these patients, with co-occurrence of severe blindness and deafness being rare. CASE REPORT: We describe a patient, homozygous for a 873 GAA expansion in...
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| Publicado no: | Cerebellum Ataxias |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8283931/ https://ncbi.nlm.nih.gov/pubmed/34266481 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40673-021-00140-6 |
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