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Article

Genetic testing for inherited retinal degenerations: Triumphs and tribulations.

American journal of medical genetics. Part C, Seminars in medical genetics - 1 Sept 2020

Branham Kari, Schlegel Dana, Fahim Abigail T, Jayasundera K Thiran

Abstract excerpt

Inherited retinal degenerations (IRDs) are a genotypically and phenotypically diverse group of conditions. Great strides have been made toward identifying the genetic basis for these conditions over the last 30 years-more than 270 different genes involved in syndromic and nonsyndromic forms of retinal dystrophies have now been identified. The identification of these genes and the improvement of clinical...

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Identifiers

PMID: 32865341
DOI: 10.1002/ajmg.c.31835

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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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