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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7809849/ https://www.ncbi.nlm.nih.gov/pubmed/33451298 http://dx.doi.org/10.1186/s12883-021-02051-9 |