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Article

Correlation of novel PAX6 gene abnormalities in aniridia and clinical presentation.

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie - 1 Dec 2017

Sannan Naif S, Gregory-Evans Cheryl Y, Lyons Christopher J, Lehman Anna M, Langlois Sylvie, Warner Simon J, Zakrzewski Helen, Gregory-Evans Kevin

Abstract excerpt

OBJECTIVE: To describe the clinical presentation and genotype of subjects with aniridia with a particular focus on foveal hypoplasia. DESIGN: Prospective cohort study. PARTICIPANTS: Thirty-three Canadian participants with aniridia and of various ethnic backgrounds residing in British Columbia. METHODS: Full ophthalmic examinations and posterior segment spectral domain-optical coherence tomography (SD-OCT) imaging...

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Source

Identifiers

PMID: 29217025
DOI: 10.1016/j.jcjo.2017.04.006

Genes

PAX6
DCDC1
ELP4

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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