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Genetic Diagnosis for 64 Patients with Inherited Retinal Disease.

Genes - 26 Dec 2022

Lynn Jacob, Raney Austin, Britton Nathaniel, Ramoin Josh, Yang Ryan W, Radojevic Bojana, McClard Cynthia K, Kingsley Ronald, Coussa Razek Georges, Bennett Lea D

Abstract excerpt

The overlapping genetic and clinical spectrum in inherited retinal degeneration (IRD) creates challenges for accurate diagnoses. The goal of this work was to determine the genetic diagnosis and clinical features for patients diagnosed with an IRD. After signing informed consent, peripheral blood or saliva was collected from 64 patients diagnosed with an IRD. Genetic testing was performed on each patient in a...

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Identifiers

PMID: 36672815
DOI: 10.3390/genes14010074
PMCID: PMC9859429

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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