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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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Principais autores: Giovanni Marco Conti, Francesca Cancellieri, Mathieu Quinodoz, Karolina Kaminska, Veronika Vaclavik, Carlo Rivolta, Hoai Viet Tran
פורמט: Artigo
שפה:Inglês
יצא לאור: Karger Publishers 2024-03-01
סדרה:Case Reports in Ophthalmology
נושאים:
gnb1
rod-cone dystrophy
retinitis pigmentosa
inherited retinal disease
case report
גישה מקוונת:https://beta.karger.com/Article/FullText/537997
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