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Article

Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations.

Investigative ophthalmology & visual science - 1 Sept 2006

Weisschuh Nicole, Dressler Paul, Schuettauf Frank, Wolf Christiane, Wissinger Bernd, Gramer Eugen

Abstract excerpt

PURPOSE: To determine the prevalence of FOXC1 and PITX2 mutations and to assess clinical phenotypes in a cohort of German patients with Axenfeld-Rieger malformations. METHODS: All coding exons of the FOXC1 and PITX2 genes were amplified by PCR from genomic DNA and subjected to direct DNA sequencing. Analysis of mutations in control subjects was performed by restriction fragment length polymorphism (RFLP)...

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Source

Identifiers

PMID: 16936096
DOI: 10.1167/iovs.06-0343

Genes

FOXC1
PITX2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations.PMID 16936096Read ↗

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