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Article

Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation.

American journal of ophthalmology - 1 May 2013

Rødahl Eyvind, Knappskog Per M, Majewski Jacek, Johansson Stefan, Telstad Wenche, Kråkenes Jostein, Boman Helge

Abstract excerpt

PURPOSE: To investigate the diverse ocular manifestations and identify the causative mutation in a large family with autosomal dominant anterior segment dysgenesis accompanied in some individuals by cerebral vascular disease. DESIGN: Retrospective observational case series and laboratory investigation. METHODS: Forty-five family members from 4 generations underwent ophthalmic examination. Molecular genetic...

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PMID: 23394911
DOI: 10.1016/j.ajo.2012.11.028

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

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