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Article

Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis.

Survey of ophthalmology - 1 Jan 2000

Michaelides Michel, Hardcastle Alison J, Hunt David M, Moore Anthony T

Abstract excerpt

The cone and cone-rod dystrophies form part of a heterogeneous group of retinal disorders that are an important cause of visual impairment in children and adults. There have been considerable advances made in recent years in our understanding of the pathogenesis of these retinal dystrophies, with many of the chromosomal loci and causative genes having now been identified. Mutations in 12 genes, including GUCA1A,...

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

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Source

Identifiers

PMID: 16644365
DOI: 10.1016/j.survophthal.2006.02.007

Genes

ABCA4
RPGR

Provenance

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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