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Article

Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies.

American journal of ophthalmology - 1 Oct 2023

Rodilla Cristina, Martín-Merida Inmaculada, Blanco-Kelly Fiona, Trujillo-Tiebas María José, Avila-Fernandez Almudena, Riveiro-Alvarez Rosa, Del Pozo-Valero Marta, Perea-Romero Irene, Swafiri Saoud Tahsin, Zurita Olga, Villaverde Cristina, López Miguel Ángel, Romero Raquel, Iancu Ionut Florin, Núñez-Moreno Gonzalo, Jiménez-Rolando Belén, Martin-Gutierrez María Pilar, Carreño Ester, Minguez Pablo, García-Sandoval Blanca, Ayuso Carmen, Corton Marta

Abstract excerpt

PURPOSE: To describe the genetic and clinical spectrum of GUCY2D-associated retinopathies and to accurately establish their prevalence in a large cohort of patients. DESIGN: Retrospective case series. METHODS: Institutional study of 47 patients from 27 unrelated families with retinal dystrophies carrying disease-causing GUCY2D variants from the Fundación Jiménez Díaz hospital dataset of 8000 patients. Patients...

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PMID: 37327959
DOI: 10.1016/j.ajo.2023.05.015

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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