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Ophthalmologic Findings of Boucher-Neuhäuser Syndrome
To report a case of Boucher-Neuhäuser syndrome, which is an autosomal recessive disorder characterized by the triad of spinocerebellar ataxia, chorioretinal dystrophy, and hypogonadotropic hypogonadism. An 18-year-old man was seen for visual problems, which had been diagnosed as retinitis pigmentosa...
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| Auteurs principaux: | , , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
The Korean Ophthalmological Society
2008
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2629917/ https://ncbi.nlm.nih.gov/pubmed/19096246 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3341/kjo.2008.22.4.263 |
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