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SPOAN syndrome: a novel mutation and new ocular findings; a case report
BACKGROUND: To report a novel mutation and new clinical findings in a case with SPOAN syndrome (spastic paraplegia, optic atrophy, neuropathy). CASE PRESENTATION: Clinical examination, genetic testing and electroretinography were used to study a 2-year-old child who was referred to our clinic with n...
Kaydedildi:
| Yayımlandı: | BMC Neurol |
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| Asıl Yazarlar: | , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
BioMed Central
2021
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7809849/ https://ncbi.nlm.nih.gov/pubmed/33451298 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12883-021-02051-9 |
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