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Article

Clinical characterisation and molecular analysis of Wagner syndrome.

The British journal of ophthalmology - 1 May 2007

Meredith Sarah P, Richards Allan J, Flanagan Declan W, Scott John D, Poulson Arabella V, Snead Martin P

Abstract excerpt

AIM: To detail the clinical findings in a British family with molecularly characterised Wagner syndrome. BACKGROUND: Only in the last year has the specific genetic defect in Wagner syndrome been identified, and the background literature of the molecular genetics is outlined. Clinical and laboratory findings in a second case of Wagner syndrome are included to highlight difficulties that can be encountered when...

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Identifiers

PMID: 17035272
DOI: 10.1136/bjo.2006.104406
PMCID: PMC1954774

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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.

Related research

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Clinical characterisation and molecular analysis of Wagner syndrome.PMID 17035272Read ↗

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Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome.Semantic proximity Read ↗

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Is exon 8 the most critical or the only dispensable exon of the VCAN gene? Insights into VCAN variants and clinical spectrum of Wagner syndrome.Semantic proximity Read ↗

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