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Article

Pulverulent cataract with variably associated microcornea and iris coloboma in a MAF mutation family.

The British journal of ophthalmology - 1 Apr 2003

Jamieson R V, Munier F, Balmer A, Farrar N, Perveen R, Black G C M

Abstract excerpt

AIMS: To report the detailed clinical findings in a three generation pedigree with autosomal dominant cataract, microcornea, and coloboma resulting from mutation of the lens development gene, MAF. METHODS: Five members of a three generation pedigree with progressive cataracts underwent detailed ophthalmic examination to characterise associated ocular phenotypic features. RESULTS: The cataracts present in all...

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Identifiers

PMID: 12642301
DOI: 10.1136/bjo.87.4.411
PMCID: PMC1771582

Genes

MAF

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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