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Article

The retinal ciliopathies.

Ophthalmic genetics - 1 Sept 2007

Adams N A, Awadein Ahmed, Toma Hassanain S

Abstract excerpt

While the functions of many of the proteins located in or associated with the photoreceptor cilia are poorly understood, disruption of the function of these proteins may result in a wide variety of phenotypes ranging from isolated retinal degeneration to more pleiotropic phenotypes. Systemic findings include neurosensory hearing loss, developmental delay, situs-inversus, infertility, disorders of limb and digit...

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Source

Identifiers

PMID: 17896309
DOI: 10.1080/13816810701537424

Genes

RPGR

Provenance

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

Source receipt: pubmed, retrieved 5 Sept 2026.

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