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Article

Childhood-onset genetic cone-rod photoreceptor diseases and underlying pathobiology.

EBioMedicine - 1 Jan 2021

Garafalo Alexandra V, Sheplock Rebecca, Sumaroka Alexander, Roman Alejandro J, Cideciyan Artur V, Jacobson Samuel G

Abstract excerpt

Inherited retinal diseases (IRDs) were first classified clinically by history, ophthalmoscopic appearance, type of visual field defects, and electroretinography (ERG). ERGs isolating the two major photoreceptor types (rods and cones) showed some IRDs with greater cone than rod retinal dysfunction; others were the opposite. Within the cone-rod diseases, there can be phenotypic variability, which can be attributed...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 33421946
DOI: 10.1016/j.ebiom.2020.103200
PMCID: PMC7806809

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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