The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes

Abstract Inherited retinal dystrophies are characterized by progressive retina degeneration and mutations in at least 250 genes have been associated as disease-causing. CRB1 is one of many genes analyzed in molecular diagnosis for inherited retinal dystrophy. Crumbs homolog-1 protein encoded by CRB1...

Full description

Bibliographic Details
Main Authors: Fabiana Louise Motta, Mariana Vallim Salles, Karita Antunes Costa, Rafael Filippelli-Silva, Renan Paulo Martin, Juliana Maria Ferraz Sallum
Format: Article
Language:English
Published: Nature Publishing Group 2017-08-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-017-09035-1