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Article

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

European journal of human genetics : EJHG - 1 Jan 2000

Mirzayans F, Gould D B, Héon E, Billingsley G D, Cheung J C, Mears A J, Walter M A

Abstract excerpt

Mutations in the forkhead-like 7 (FKHL7) gene have been recently shown to cause juvenile glaucoma and anterior segment anomalies. We report on a three-generation family with Axenfeld-Rieger syndrome (ARS), harboring an alteration in the FKHL7 gene. Genetic linkage analyses excluded the ARS phenotype from chromosomes 4q25 and 13q14, the locations of the PITX2 and RIEG2 loci, respectively. Evidence of linkage was...

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Source

Identifiers

PMID: 10713890
DOI: 10.1038/sj.ejhg.5200354

Genes

PITX2

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.

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