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Article

A new autosomal dominant Peters' anomaly phenotype expanding the anterior segment dysgenesis spectrum.

Acta ophthalmologica - 1 Feb 2009

Berker Nilufer, Alanay Yasemin, Elgin Ufuk, Volkan-Salanci Bilge, Simsek Tulay, Akarsu Nurten, Alikasifoglu Mehmet

Abstract excerpt

PURPOSE: To test the association of genes involved in anterior segment development in a family with autosomal dominantly inherited Peters' anomaly (PA) with a unique ocular phenotype. METHODS: Six members of a five-generation family with PA were extensively phenotyped and linkage analysis of cand...

Read the complete abstract on PubMed

Topics

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

Share to Cytochrome P-450 CYP1B1

Share to Homeobox Protein PITX2

Share to Nystagmus, Pathologic

Share to PAX6 Transcription Factor

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Source

Identifiers

PMID: 18616618
DOI: 10.1111/j.1600-0420.2007.01082.x

Genes

PAX6
FOXC1
MAF
PITX2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18616618-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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