Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies
Cristina Rodilla, Inmaculada Martín-Mérida, Fiona Blanco‐Kelly, María José Trujillo-Tiebas, Almudena Ávila‐Fernández, Rosa Riveiro-Álvarez, Marta Del Pozo‐Valero, Irene Perea‐Romero, Saoud Tahsin Swafiri, Olga Zurita, Cristina Villaverde, Miguel A. López, Raquel Escutia Romero, Ionut-Florin Iancu, Gonzalo Núñez‐Moreno, Belén Jimenez‐Rolando, María Pilar Martín-Gutiérrez, Ester Carreño, Pablo Mínguez, Blanca García‐Sandoval, Carmen Ayuso, Marta Cortón
Topics & Concepts
GUCY2DRetinitis pigmentosaCohortGeneticsBiologyGenetic heterogeneityMedicinePhenotypePathologyGuanylate cyclase 2CReceptorGuanylate cyclaseGeneRetinal Development and DisordersAutoimmune Neurological Disorders and TreatmentsBiomedical Research and Pathophysiology