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Article

CCDC66 frameshift variant associated with a new form of early-onset progressive retinal atrophy in Portuguese Water Dogs.

Scientific reports - 3 Dec 2020

Murgiano Leonardo, Becker Doreen, Spector Courtney, Carlin Kendall, Santana Evelyn, Niggel Jessica K, Jagannathan Vidhya, Leeb Tosso, Pearce-Kelling Sue, Aguirre Gustavo D, Miyadera Keiko

Abstract excerpt

Aberrant photoreceptor function or morphogenesis leads to blinding retinal degenerative diseases, the majority of which have a genetic aetiology. A variant in PRCD previously identified in Portuguese Water Dogs (PWDs) underlies prcd (progressive rod-cone degeneration), an autosomal recessive progressive retinal atrophy (PRA) with a late onset at 3-6 years of age or older. Herein, we have identified a new form of...

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Identifiers

PMID: 33273526
DOI: 10.1038/s41598-020-77980-5
PMCID: PMC7712861

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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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