GNB1-Related Rod-Cone Dystrophy: A Case Report
Introduction: The GNB1 (guanine nucleotide-binding protein, β1) gene encodes for the ubiquitous β1 subunit of heterotrimeric G proteins, which are associated with G-protein-coupled receptors (GPCRs). GNB1 mutations cause a neurodevelopmental disorder characterized by a broad clinical spectrum. A nov...
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| Hauptverfasser: | , , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Karger Publishers
2024-03-01
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| Schriftenreihe: | Case Reports in Ophthalmology |
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| Online-Zugang: | https://beta.karger.com/Article/FullText/537997 |
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