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Article

History of Finding Genes and Mutations Causing Inherited Retinal Diseases.

Cold Spring Harbor perspectives in medicine - 3 Sept 2024

Daiger Stephen P, Sullivan Lori S, Cadena Elizabeth L, Bowne Sara J

Abstract excerpt

This is a brief history of the work by many investigators throughout the world to find genes and mutations causing inherited retinal diseases (IRDs). It largely covers 40 years, from the late-1980s through today. Perhaps the best reason to study history is to better understand the present. The "present" for IRDs is exceptionally complex. Mutations in hundreds of genes are known to cause IRDs; tens of thousands of...

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Identifiers

PMID: 37788881
DOI: 10.1101/cshperspect.a041287
PMCID: PMC11368188

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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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