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Article

A Stargardt disease-like phenotype in GAS8-related primary ciliary dyskinesia.

Ophthalmic genetics - 1 Oct 2022

Khan Arif O

Abstract excerpt

PURPOSE: Ciliopathies are broadly classified as non-motile or motile (primary ciliary dyskinesia). Early-onset retinal dystrophy is common in non-motile ciliopathy, but retinal dystrophy is not considered a feature of primary ciliary dyskinesia. The subject of this report is woman referred as a case of Stargardt disease who in fact had retinal dystrophy apparently related to GAS8-related primary ciliary...

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Source

Identifiers

PMID: 35736137
DOI: 10.1080/13816810.2022.2090012

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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