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Article

Familial retinal detachment associated with COL2A1 exon 2 and FZD4 mutations.

Clinical & experimental ophthalmology - 1 Jul 2012

Edwards Thomas L, Burt Benjamin O, Black Graeme C M, Perveen Rahat, Kearns Lisa S, Staffieri Sandra E, Toomes Carmel, Buttery Robert G, Mackey David A

Abstract excerpt

BACKGROUND: To characterize the clinical and genetic abnormalities within two Australian pedigrees with high incidences of retinal detachment and visual disability. DESIGN: Prospective review of two extended Australian pedigrees with high rates of retinal detachment. PARTICIPANTS: Twenty-two family members from two extended Australian pedigrees with high rates of retinal detachment were examined. METHODS: A full...

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Source

Identifiers

PMID: 22574936
DOI: 10.1111/j.1442-9071.2012.02804.x

Genes

FZD4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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