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Article

Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma.

Human molecular genetics - 1 Jan 2002

Jamieson Robyn V, Perveen Rahat, Kerr Bronwyn, Carette Martin, Yardley Jill, Heon Elise, Wirth M Gabriela, van Heyningen Veronica, Donnai Di, Munier Francis, Black Graeme C M

Abstract excerpt

Human congenital cataract and ocular anterior segment dysgenesis both demonstrate extensive genetic and phenotypic heterogeneity. We identified a family where ocular developmental abnormalities (cataract, anterior segment dysgenesis and microphthalmia) co-segregated with a translocation, t(5;16)(p15.3;q23.2), in both balanced and unbalanced forms. We hypothesized that this altered the expression of a gene of...

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

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Share to Chromosomes, Human, Pair 16

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Share to Lens, Crystalline

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Source

Identifiers

PMID: 11772997
DOI: 10.1093/hmg/11.1.33

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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Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma.PMID 11772997Read ↗

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