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Article

Novel CYP1B1 and known PAX6 mutations in anterior segment dysgenesis (ASD).

Journal of glaucoma - 1 Dec 2006

Chavarria-Soley Gabriela, Michels-Rautenstrauss Karin, Caliebe Almuth, Kautza Monika, Mardin Christian, Rautenstrauss Bernd

Abstract excerpt

PURPOSE: The study intended to define the underlying genetic defects for 21 index patients affected with different forms of anterior segment dysgenesis. Sequence analysis for the PAX6, PITX2, FOXC1, and CYP1B1 genes has been implemented for this purpose. METHODS: Ten patients affected with Peters anomaly, 8 with Rieger anomaly, and 3 with aniridia were included in this study. All patients underwent a complete eye...

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Share to Anterior Eye Segment
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cytochrome P-450 CYP1B1

Share to Eye Abnormalities

Share to Forkhead Transcription Factors

Share to Homeobox Protein PITX2

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Share to PAX6 Transcription Factor

Source

Identifiers

PMID: 17106362
DOI: 10.1097/01.ijg.0000243467.28590.6a

Genes

PAX6
FOXC1
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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