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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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Bibliografische gegevens
Gepubliceerd in:Case Rep Ophthalmol
Hoofdauteurs: Frousiakis, Starleen E., Pouw, Andrew E., Karanjia, Rustum, Sadun, Alfredo A.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: S. Karger AG 2014
Onderwerpen:
Online toegang: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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