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Article

Expanding the Clinical and Molecular Heterogeneity of Nonsyndromic Inherited Retinal Dystrophies.

The Journal of molecular diagnostics : JMD - 1 Apr 2020

Rodríguez-Muñoz Ana, Aller Elena, Jaijo Teresa, González-García Emilio, Cabrera-Peset Ana, Gallego-Pinazo Roberto, Udaondo Patricia, Salom David, García-García Gema, Millán José M

Abstract excerpt

A cohort of 172 patients diagnosed clinically with nonsyndromic retinal dystrophies, from 110 families underwent full ophthalmologic examination, including retinal imaging, electrophysiology, and optical coherence tomography, when feasible. Molecular analysis was performed using targeted next-generation sequencing (NGS). Variants were filtered and prioritized according to the minimum allele frequency, and finally...

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DNA Copy Number Variations
DNA Mutational Analysis
Genetic Association Studies
Genetic Diseases, Inborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genetic Heterogeneity

High-Throughput Nucleotide Sequencing

Retinal Dystrophies

Tomography, Optical Coherence

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PMID: 32036094
DOI: 10.1016/j.jmoldx.2020.01.003

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