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Nanophthalmos patient with a THR518MET mutation in MYRF, a case report
BACKGROUND: Nanophthalmos has a significant genetic background and disease-causing mutations have been recently been reported in the myelin regulatory factor (MYRF) gene. We report clinical features in a patient with nanophthalmos and a Thr518Met MYRF mutation. CASE PRESENTATION: A three-year-old ma...
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| Publicado no: | BMC Ophthalmol |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7528587/ https://ncbi.nlm.nih.gov/pubmed/33004036 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12886-020-01659-8 |
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