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A Female Patient with Down Syndrome and Low-Penetrance Leber's Hereditary Optic Neuropathy
We present the case of a 19-year-old female with a history of Down syndrome (DS) who was referred to our neuro-ophthalmology clinic for evaluation of Leber's hereditary optic neuropathy (LHON). The patient's family history was significant for a known G11778A mutation in a maternal relative...
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| Publicat a: | Case Rep Ophthalmol |
|---|---|
| Autors principals: | , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
S. Karger AG
2014
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4280465/ https://ncbi.nlm.nih.gov/pubmed/25566062 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000369612 |
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