Expanding the Clinical and Molecular Heterogeneity of Nonsyndromic Inherited Retinal Dystrophies
Ana Rodríguez‐Muñoz, Elena Aller, Teresa Jaijo, Emilio González García, Ana Cabrera-Peset, Roberto Gallego-Pinazo, Patricia Udaondo, David Salom, Gema García‐García, José M. Millán
Topics & Concepts
Retinitis pigmentosaMultiplex ligation-dependent probe amplificationGeneticsMedical geneticsGenetic heterogeneityGene duplicationRetinal degenerationMedicineBiologyOphthalmologyRetinalPhenotypeGeneExonRetinal Development and DisordersRetinal Diseases and TreatmentsCRISPR and Genetic Engineering