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

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

Ophthalmology - 1 Jun 2012

Lim Hyun Taek, Seo Eul-Ju, Kim Gu-Hwan, Ahn Hyosook, Lee Hye-jin, Shin Kwang Hun, Lee Jong-Keuk, Yoo Han-Wook

Abstract excerpt

PURPOSE: To describe clinical and molecular characteristics of Korean patients with aniridia and to compare the clinical phenotype between those having an identifiable PAX6 mutation and those not. DESIGN: Comparative case series. PARTICIPANTS: A total of 14 Korean patients from 10 families with aniridia. METHODS: Complete ophthalmologic examinations were performed for all patients. PAX6 analysis included direct...

Read the complete abstract on PubMed

Topics

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

Share to Aniridia
Share to Eye Proteins

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Forkhead Transcription Factors

Share to Molecular Diagnostic Techniques

Share to Nucleic Acid Amplification Techniques

Share to Paired Box Transcription Factors

Share to PAX6 Transcription Factor

Source

Identifiers

PMID: 22361317
DOI: 10.1016/j.ophtha.2011.12.010

Genes

PAX6
FOXE3
PITX3

Variants

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Comparison between aniridia with and without PAX6 mutations: clinical and molecular analysis in 14 Korean patients with aniridia.PMID 22361317Read ↗

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

Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches.Semantic proximity Read ↗

Novel clinical presentation and PAX6 mutation in families with congenital aniridiaSemantic proximity Read ↗

Congenital Aniridia: Clinic, Genetics, Therapeutics, and PrognosisSemantic proximity Read ↗

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

Correlation of novel PAX6 gene abnormalities in aniridia and clinical presentation.Semantic proximity Read ↗

Clinical and molecular aspects of aniridia.Semantic proximity Read ↗

Aniridia.Semantic proximity Read ↗

Two novel PAX6 mutations identified in northeastern Chinese patients with aniridia.Semantic proximity Read ↗

Detection of a novel PAX6 variant in a Chinese family with multiple ocular abnormalities.Semantic proximity Read ↗

Clinical and molecular aspects of congenital aniridia - A review of current concepts.Semantic proximity Read ↗

Congenital aniridia: etiology, manifestations and managementSemantic proximity Read ↗

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