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Article

Identification of the genetic defect in the original Wagner syndrome family.

Molecular vision - 17 Apr 2006

Kloeckener-Gruissem Barbara, Bartholdi Deborah, Abdou Marie-Therese, Zimmermann Dieter R, Berger Wolfgang

Abstract excerpt

PURPOSE: The aim of the present study was to determine the genetic defect in Wagner syndrome, a rare disorder belonging to the group of hereditary vitreoretinal degenerations. This disease has been genetically mapped to chromosome 5q14.3. METHODS: Molecular analysis was performed in the progeny o...

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Identifiers

PMID: 16636652

Genes

EDIL3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16636652-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Research trail→

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Identification of the genetic defect in the original Wagner syndrome family.PMID 16636652Read ↗

Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome.Semantic proximity Read ↗

Clinical characterisation and molecular analysis of Wagner syndrome.Semantic proximity Read ↗

A new VCAN/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features.Semantic proximity Read ↗

A family with Wagner syndrome with uveitis and a new versican mutation.Semantic proximity Read ↗

Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants.Semantic proximity Read ↗

Mutational hot spot potential of a novel base pair mutation of the CSPG2 gene in a family with Wagner syndrome.Semantic proximity Read ↗

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 ↗

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

Identification of Novel Copy Number Variations of VCAN Gene in Three Chinese Families with Wagner Disease.Semantic proximity Read ↗

WAGNER syndrome: anatomic, functional and genetic characterization of a Portuguese family.Semantic proximity Read ↗

Clinical and genetic study on two Chinese families with Wagner vitreoretinopathy.Semantic proximity Read ↗

De novo splice mutation in the versican gene in a family with Wagner syndrome.Semantic proximity Read ↗

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