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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Detalles Bibliográficos
Autores principales: Frousiakis, Starleen E., Pouw, Andrew E., Karanjia, Rustum, Sadun, Alfredo A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2014
Materias:
Published online: November, 2014
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4280465/
https://www.ncbi.nlm.nih.gov/pubmed/25566062
http://dx.doi.org/10.1159/000369612

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4280465/
https://www.ncbi.nlm.nih.gov/pubmed/25566062
http://dx.doi.org/10.1159/000369612

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