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Article

A novel PITX2 mutation and a polymorphism in a 5-generation family with Axenfeld-Rieger anomaly and coexisting Fuchs' endothelial dystrophy.

Ophthalmology - 1 Oct 2006

Kniestedt Christoph, Taralczak Malgorzata, Thiel Michael A, Stuermer Joerg, Baumer Alessandra, Gloor Balder P

Abstract excerpt

PURPOSE: To investigate the clinical and genetic appearance of Axenfeld-Rieger anomaly or syndrome (ARAS) and Fuchs' endothelial dystrophy (FED) in a 5-generation pedigree coexpressing both pathologic features in a large number of family members. DESIGN: Observational case-control and DNA linkage and screening study. PARTICIPANTS: Of 114 family members, 50 underwent clinical investigation and DNA analysis between...

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Source

Identifiers

PMID: 16876867
DOI: 10.1016/j.ophtha.2006.05.017

Genes

PITX2

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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