Genes, Vol. 8, Pages 280: Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies

This study provides the first detailed clinical-genetic assessment of severe IRDs with infantile onset and lays the foundation of a standardized protocol for the selection of patients that are more likely to benefit from gene replacement therapeutic approaches.

Source: Genes - October 20, 2017 Category: Genetics & Stem Cells Authors: Valentina Di Iorio Marianthi Karali Raffaella Brunetti-Pierri Mariaelena Filippelli Giuseppina Di Fruscio Mariateresa Pizzo Margherita Mutarelli Vincenzo Nigro Francesco Testa Sandro Banfi Francesca Simonelli Tags: Article Source Type: research