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Chorioretinal Changes in a Genetically Confirmed Case of Boucher-Neuhäuser Syndrome
PURPOSE: To describe the retinal findings in a 25-year-old white female in whom a diagnosis of Boucher-Neuhäuser Syndrome (BNS) was supported by genetic testing, which identified a missense and novel nonsense mutation in the PNPLA6 gene. METHODS: Observational case report of a 25-year-old female who...
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| Publicado no: | Retin Cases Brief Rep |
|---|---|
| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6330241/ https://ncbi.nlm.nih.gov/pubmed/30015775 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/ICB.0000000000000769 |
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