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

doi:10.1016/j.jcjo.2017.04.006

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Back to search

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...

Topics

Adolescent
Adult
Aged
Aged, 80 and over
Aniridia
Child
Chromosome Deletion
Chromosomes, Human, Pair 11
Cohort Studies
Female
Fovea Centralis
Gene Amplification
Humans
In Situ Hybridization, Fluorescence

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Middle Aged

Mutation

PAX6 Transcription Factor

Source

Open in PubMed

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 30 Aug 2026.