Discover Community Create You

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

Article

11p13 deletions can be more frequent than the PAX6 gene point mutations in Polish patients with aniridia.

Journal of applied genetics - 1 Aug 2013

Wawrocka Anna, Sikora Agata, Kuszel Lukasz, Krawczynski Maciej R

Abstract excerpt

Aniridia is a rare, bilateral, congenital ocular disorder causing incomplete formation of the iris, usually characterized by iris aplasia/hypoplasia. It can also appear with other ocular anomalies, such as cataracts, glaucoma, corneal pannus, optic nerve hypoplasia, macular hypoplasia, or ectopia...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Aniridia
Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 11

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Eye Proteins

Share to Homeodomain Proteins

Share to Paired Box Transcription Factors

Share to PAX6 Transcription Factor

Share to Poland

Source

Open in PubMed Open full text

Identifiers

PMID: 23761016
DOI: 10.1007/s13353-013-0154-0
PMCID: PMC3720988

Genes

PAX6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23761016-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

11p13 deletions can be more frequent than the PAX6 gene point mutations in Polish patients with aniridia.PMID 23761016Read ↗

<i>PAX6</i>3′ deletion in a family with aniridiaSemantic proximity Read ↗

Novel variants in the PAX6 gene related to isolated aniridia.Semantic proximity Read ↗

Screening of PAX6 gene in Italian congenital aniridia patients revealed four novel mutations.Semantic proximity Read ↗

Analysis of genotype-phenotype correlations in PAX6-associated aniridia.Semantic proximity Read ↗

The genetics of aniridia - simple things become complicated.Semantic proximity Read ↗

Clinical and molecular aspects of aniridia.Semantic proximity Read ↗

Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations.Semantic proximity Read ↗

Identification of a novel frameshift mutation in PAX6 gene and the clinical management in an Asian Indian aniridia family.Semantic proximity Read ↗

PAX6 mutations in aniridia.Semantic proximity Read ↗

Genetics and epidemiology of aniridia: Updated guidelines for genetic study.Semantic proximity Read ↗

Molecular analysis of the PAX6 gene in Mexican patients with congenital aniridia: report of four novel mutations.Semantic proximity Read ↗

Comparison between aniridia with and without PAX6 mutations: clinical and molecular analysis in 14 Korean patients with aniridia.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.