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Article

A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly.

Clinical genetics - 1 Nov 2008

Weisschuh N, Wolf C, Wissinger B, Gramer E

Abstract excerpt

Peters anomaly and Axenfeld-Rieger syndrome (ARS) belong to the overlapping spectrum of disorders summarized as anterior segment dysgenesis (ASD). Five patients from a family with Peters' anomaly and ARS were screened for mutations in the PITX2, CYP1B1 and FOXC1 genes by direct sequencing. All affected family members examined were heterozygous for a single nucleotide substitution, resulting in a nonsense mutation...

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Topics

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Share to Anterior Eye Segment
Share to Aryl Hydrocarbon Hydroxylases
Share to Cytochrome P-450 CYP1B1

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cytochrome P-450 Enzyme System

Share to Eye Abnormalities

Share to Forkhead Transcription Factors

Share to Homeobox Protein PITX2

Source

Identifiers

PMID: 18498376
DOI: 10.1111/j.1399-0004.2008.01025.x

Genes

FOXC1
PITX2

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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A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly.PMID 18498376Read ↗

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