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

A Family with Axenfeld-Rieger Syndrome: Report of the Clinical and Genetic Findings.

Korean journal of ophthalmology : KJO - 1 Aug 2015

Yang Hee Jung, Lee You Kyung, Joo Choun-Ki, Moon Jung Il, Mok Jee Won, Park Myoung Hee

Abstract excerpt

PURPOSE: To describe clinical findings in a Korean family with Axenfeld-Rieger syndrome. METHODS: A retrospective review of clinical data about patients with diagnosed Axenfeld-Rieger syndrome. Five affected members of the family underwent a complete ophthalmologic examination. We screened the forkhead box C1 gene and the pituitary homeobox 2 gene in patients. Peripheral blood leukocytes and buccal mucosal...

Read the complete abstract on PubMed

Topics

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

Share to Anterior Eye Segment
Share to DNA
Share to Eye Abnormalities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Eye Diseases, Hereditary

Share to Forkhead Transcription Factors

Share to Genetic Testing

Share to Homeobox Protein PITX2

Share to Homeodomain Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 26240509
DOI: 10.3341/kjo.2015.29.4.249
PMCID: PMC4520868

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Family with Axenfeld-Rieger Syndrome: Report of the Clinical and Genetic Findings.PMID 26240509Read ↗

A novel forkhead box C1 gene mutation in a Korean family with Axenfeld-Rieger syndrome.Semantic proximity Read ↗

A Novel Variant in FOXC1 Associated With Atypical Axenfeld-Rieger SyndromeSemantic proximity Read ↗

Screening for mutations of Axenfeld-Rieger syndrome caused by FOXC1 gene in Japanese patients.Semantic proximity Read ↗

Novel Genetic Findings in a Chinese Family with Axenfeld-Rieger SyndromeSemantic proximity Read ↗

Novel mutations in the FOXC1 gene in Japanese patients with Axenfeld-Rieger syndrome.Semantic proximity Read ↗

Novel mutation in FOXC1 wing region causing Axenfeld-Rieger anomaly.Semantic proximity Read ↗

Axenfeld-Rieger syndrome.Semantic proximity Read ↗

A Novel Homozygous Mutation in FOXC1 Causes Axenfeld Rieger Syndrome with Congenital Glaucoma.Semantic proximity Read ↗

Axenfeld-Rieger syndrome: new perspectives: Figure 1Semantic proximity Read ↗

Axenfeld-Rieger syndrome: more than meets the eye.Semantic proximity Read ↗

Axenfeld-Rieger anomaly: a novel mutation in the forkhead box C1 (FOXC1) gene in a 4-generation family.Semantic proximity Read ↗

Axenfeld-Rieger syndrome in the age of molecular genetics.Semantic proximity Read ↗

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