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Article

Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions.

Clinical & experimental ophthalmology - 1 Jul 2007

Koenekoop Robert K, Lopez Irma, den Hollander Anneke I, Allikmets Rando, Cremers Frans P M

Abstract excerpt

Human retinal dystrophies have unparalleled genetic and clinical diversity and are currently linked to more than 185 genetic loci. Genotyping is a crucial exercise, as human gene-specific clinical trials to study photoreceptor rescue are on their way. Testing confirms the diagnosis at the molecul...

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Source

Identifiers

PMID: 17651254
DOI: 10.1111/j.1442-9071.2007.01534.x

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CRB1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Prepared record publication-17651254-2026-09-05.1. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 5 Sept 2026.

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