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

Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly.

American journal of human genetics - 1 Nov 1998

Mears A J, Jordan T, Mirzayans F, Dubois S, Kume T, Parlee M, Ritch R, Koop B, Kuo W L, Collins C, Marshall J, Gould D B, Pearce W, Carlsson P, Enerbäck S, Morissette J, Bhattacharya S, Hogan B, Raymond V, Walter M A

Abstract excerpt

Genetic linkage, genome mismatch scanning, and analysis of patients with alterations of chromosome 6 have indicated that a major locus for development of the anterior segment of the eye, IRID1, is located at 6p25. Abnormalities of this locus lead to glaucoma. FKHL7 (also called "FREAC3"), a member of the forkhead/winged-helix transcription-factor family, has also been mapped to 6p25. DNA sequencing of FKHL7 in...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Sequence
Share to Base Sequence

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

Share to Chromosome Mapping

Share to DNA-Binding Proteins

Share to DNA Primers

Share to Genetic Markers

Source

Open in PubMed Open full text

Identifiers

PMID: 9792859
DOI: 10.1086/302109
PMCID: PMC1377542

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

Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly.PMID 9792859Read ↗

Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25.Semantic proximity Read ↗

The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25.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 anomaly and Axenfeld-Rieger syndrome: clinical, molecular-cytogenetic, and DNA array analyses of three patients with chromosomal defects at 6p25.Semantic proximity Read ↗

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

The 6p25 deletion syndrome: An update on a rare neurocristopathySemantic proximity Read ↗

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

Variable Anterior Segment Dysgenesis And Cardiac Anomalies Caused By A Novel Truncating Variant Of FOXC1Semantic proximity Read ↗

Molecular genetics of Axenfeld-Rieger malformationsSemantic proximity Read ↗

Anirdia-like phenotype caused by 6p25 dosage aberrations.Semantic proximity Read ↗

Familial Axenfeld-Rieger anomaly, cardiac malformations, and sensorineural hearing loss: a provisionally unique genetic syndrome?Semantic proximity Read ↗

Exome Sequencing Identifies a Missense Variant in EFEMP1 Co-Segregating in a Family with Autosomal Dominant Primary Open-Angle GlaucomaSemantic proximity Read ↗

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