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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Udgivet i:Retin Cases Brief Rep
Main Authors: DeNaro, Brittany B., Dhrami-Gavazi, Elona, Rubaltelli, David M., Freund, K. Bailey, Lee, Winston, Yannuzzi, Lawrence A., Tsang, Stephen H., Kang, Joann J.
Format: Artigo
Sprog:Inglês
Udgivet: 2021
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Article
Online adgang: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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