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Article

PAX6 Genotypic and Retinal Phenotypic Characterization in Congenital Aniridia.

Investigative ophthalmology & visual science - 11 May 2020

Pedersen Hilde R, Baraas Rigmor C, Landsend Erlend C S, Utheim Øygunn A, Utheim Tor P, Gilson Stuart J, Neitz Maureen

Abstract excerpt

Purpose: To investigate the association between PAX6 genotype and macular morphology in congenital aniridia. Methods: The study included 37 participants (15 males) with congenital aniridia (aged 10-72 years) and 58 age-matched normal controls (18 males). DNA was isolated from saliva samples. PAX6 exons, intron/exon junctions, and known regulatory regions were amplified in PCR and sequenced. Multiplex...

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Identifiers

PMID: 32396632
DOI: 10.1167/iovs.61.5.14
PMCID: PMC7405610

Genes

PAX6

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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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