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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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Bibliografiset tiedot
Julkaisussa:Cerebellum Ataxias
Päätekijät: Damásio, Joana, Sardoeira, Ana, Araújo, Maria, Carvalho, Isabel, Sequeiros, Jorge, Barros, José
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BioMed Central 2021
Aiheet:
Linkit: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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