Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies-Reference-Cited by-同舟云学术

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

Published:2023-10 Issue: Volume:254 Page:87-103
ISSN:0002-9394
Container-title:American Journal of Ophthalmology
language:en
Short-container-title:American Journal of Ophthalmology

Author:

Rodilla Cristina^ORCID,Martín-Merida Inmaculada,Blanco-Kelly Fiona^ORCID,Trujillo-Tiebas María José,Avila-Fernandez Almudena,Riveiro-Alvarez Rosa^ORCID,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^ORCID,Minguez Pablo^ORCID,García-Sandoval Blanca,Ayuso Carmen,Corton Marta

Funder

Ramon Areces Foundation

Community of Madrid

Carlos III Health Institute

Conchita Rabago Foundation

Publisher

Elsevier BV

Subject

Ophthalmology

Reference68 articles.

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3. Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D;Sharon;Prog Retin Eye Res,2018

4. The natural history of Leber congenital amaurosis and cone–rod dystrophy associated with variants in the GUCY2D gene;Hahn;Ophthalmol Retina,2022

5. GUCY2D mutations in retinal guanylyl cyclase 1 provide biochemical reasons for dominant cone–rod dystrophy but not for stationary night blindness;Peshenko;J Biol Chem,2020

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