Article
PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.
International journal of molecular sciences - 2 Mar 2024
Fernández-Caballero Lidia, Martín-Merida Inmaculada, Blanco-Kelly Fiona, Avila-Fernandez Almudena, Carreño Ester, Fernandez-San Jose Patricia, Irigoyen Cristina, Jimenez-Rolando Belen, Lopez-Grondona Fermina, Mahillo Ignacio, Martin-Gutierrez María Pilar, Minguez Pablo, Perea-Romero Irene, Del Pozo-Valero Marta, Riveiro-Alvarez Rosa, Rodilla Cristina, Rodriguez-Peña Lidya, Sánchez-Barbero Ana Isabel, Swafiri Saoud T, Trujillo-Tiebas María José, Zurita Olga, García-Sandoval Blanca, Corton Marta, Ayuso Carmen
Abstract excerpt
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, and to describe novel pathogenic variants and genotype-phenotype correlations. A study of 220 patients from 103 families recruited from a database of 5000 families. A molecular diagnosis was...
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