Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A family with Wagner syndrome with uveitis and a new versican mutation.

Molecular vision - 1 Jan 2013

Rothschild Pierre-Raphaël, Brézin Antoine P, Nedelec Brigitte, Burin des Roziers Cyril, Ghiotti Tiffany, Orhant Lucie, Boimard Mathieu, Valleix Sophie

Abstract excerpt

PURPOSE: To report the clinical and molecular findings of a kindred with Wagner syndrome (WS) revealed by intraocular inflammatory features. METHODS: Eight available family members underwent complete ophthalmologic examination, including laser flare cell meter measurements. Collagen, type II, alpha 1, versican (VCAN), frizzled family receptor 4, low density lipoprotein receptor-related protein 5, tetraspanin 12,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Computer Simulation
Share to Family

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fundus Oculi

Share to Retinal Degeneration

Share to RNA, Messenger

Share to RNA Processing, Post-Transcriptional

Share to RNA Splice Sites

Share to Uveitis

Source

Open in PubMed Open full text

Identifiers

PMID: 24174867
PMCID: PMC3811992

Genes

VCAN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A family with Wagner syndrome with uveitis and a new versican mutation.PMID 24174867Read ↗

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

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

Multimodal Evaluation and Management of Wagner Syndrome-Three Patients from an Affected Family.Semantic proximity Read ↗

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

Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes.Semantic proximity Read ↗

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

Detailed structural abnormalities associated with a novel VCAN variant in a family with versican vitreoretinopathy.Semantic proximity Read ↗

Identification of the genetic defect in the original Wagner syndrome family.Semantic proximity Read ↗

Clinical characterisation and molecular analysis 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 ↗

⌁Select a neighboring publication to make it the new centre.