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Article

Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletions.

Investigative ophthalmology & visual science - 1 Jun 2002

Lehmann Ordan J, Ebenezer Neil D, Ekong Rosemary, Ocaka Louise, Mungall Andrew J, Fraser Scott, McGill James I, Hitchings Roger A, Khaw Peng T, Sowden Jane C, Povey Sue, Walter Michael A, Bhattacharya Shomi S, Jordan Tim

Abstract excerpt

PURPOSE: Mutations in the forkhead transcription factor gene FOXC1 on 6p25 cause a range of ocular developmental abnormalities, with associated glaucoma. However, FOXC1 mutations have not been found in all similarly affected pedigrees mapping to this interval. This study was undertaken to investigate the potential role of 6p25 rearrangements in causing such phenotypes. METHODS: Two large families with autosomal...

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Source

Identifiers

PMID: 12036988

Genes

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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