A carregar...
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...
Na minha lista:
| Publicado no: | BMC Neurol |
|---|---|
| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2021
|
| Assuntos: | |
| Acesso em linha: | 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 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|