Condition: Hyaloideoretinal degeneration of Wagner


rs397515437 in VCAN-AS1;VCAN gene and Hyaloideoretinal degeneration of Wagner PMID 22739342 2013 Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome.

PMID 23462753 2013 Targeted sequencing of 179 genes associated with hereditary retinal dystrophies and 10 candidate genes identifies novel and known mutations in patients with various retinal diseases.

PMID 16877430 2006 Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants.

PMID 21738396 2011 A new VCAN/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features.

PMID 16043844 2005 Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome.

rs80356553 in VCAN;VCAN-AS1 gene and Hyaloideoretinal degeneration of Wagner PMID 17035272 2007 Clinical characterisation and molecular analysis of Wagner syndrome.

PMID 16636652 2006 Identification of the genetic defect in the original Wagner syndrome family.

PMID 23571384 2013 De novo splice mutation in the versican gene in a family with Wagner syndrome.

PMID 19901218 2009 Mutational hot spot potential of a novel base pair mutation of the CSPG2 gene in a family with Wagner syndrome.

PMID 24174867 2013 A family with Wagner syndrome with uveitis and a new versican mutation.