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Article

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

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Oct 2004

Mortemousque Bruno, Amati-Bonneau Patrizia, Couture François, Graffan Rodolphe, Dubois Stéphane, Colin Joseph, Bonneau Dominique, Morissette Jean, Lacombe Didier, Raymond Vincent

Abstract excerpt

OBJECTIVE: To characterize DNA mutations in a pedigree of Axenfeld-Rieger anomaly (ARA) (Online Mendelian Inheritance of Man 601631), a clinically and genetically heterogeneous, autosomal dominantly inherited disorder associated with anterior chamber abnormalities and glaucoma. DESIGN: Observational case-control and DNA linkage and screening studies. PARTICIPANTS: Affected (10 cases) and unaffected (5 controls)...

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Source

Identifiers

PMID: 15477465
DOI: 10.1001/archopht.122.10.1527

Genes

FOXC1

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.

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