Fernández-Caballero, Lidia; Martín-Merida, Inmaculada; Blanco-Kelly, Fiona; Ávila-Fernández, Almudena; Carreno, Ester; Fernández-San-Jose, Patricia; Irigoyen, Cristina; Jiménez-Rolando, Belén; López-Grondona, Fermina; Mahillo, Ignacio; Martín-Gutiérrez, María-Pilar; Mínguez, Pablo; Perea-Romero, Irene; del-Pozo-Valero, Marta; Riveiro-Álvarez, Rosa; Rodilla, Cristina; Rodríguez-Pena, Lidya; Sánchez-Barbero, Ana-Isabel; Swafiri, Saoud-T; Trujillo-Tiebas, María-José; Zurita, Olga; García-Sandoval, Blanca; Corton, Marta; Ayuso, Carmen
(MDPI, 2024-03)
PRPH2, one of the most frequently inherited retinal dystrophy (IRD)-causing genes, implies a high phenotypic variability. This study aims to analyze the PRPH2 mutational spectrum in one of the largest cohorts worldwide, ...