| 1 | VCAN, WGN1
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| Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family.
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| Bigoni S, Neri M, Scotton C, Farina R, Sabatelli P, Jiang C, Zhang J, Falzarano MS, Rossi R, Ognibene D, Selvatici R, Gualandi F, Bosshardt D, Perri P, Campa C, Brancati F, Salvatore M, De Stefano MC, Taruscio D, Trombelli L, Fang M, Ferlini A.
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| Front Genet 9:723. doi: 10.3389/fgene.2018.00723. eCollection 2018.
2019
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| 2 | VCAN, WGN1
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| VCAN Canonical Splice Site Mutation is Associated With Vitreoretinal Degeneration and Disrupts an MMP Proteolytic Site.
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| Tang PH, Velez G, Tsang SH, Bassuk AG, Mahajan VB.
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| Invest Ophthalmol Vis Sci 60(1):282-293. doi: 10.1167/iovs.18-25624.
2019
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| 3 | VCAN, WGN1
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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.
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| Ankala A, Jain N, Hubbard B, Alexander JJ, Shankar SP.
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| Am J Med Genet A 176(8):1778-1783. doi: 10.1002/ajmg.a.38855. Epub 2018 Jul 28.
2018
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| 4 | VCAN, WGN1
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| A new VCAN/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features.
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| Brézin AP, Nedelec B, Barjol A, Rothschild PR, Delpech M, Valleix S.
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| Mol Vis. 17:1669-78. 2011
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| 5 | WGN1, VCAN
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| Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants.
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| Mukhopadhyay A, Nikopoulos K, Maugeri A, de Brouwer AP, van Nouhuys CE, Boon CJ, Perveen R, Zegers HA, Wittebol-Post D, van den Biesen PR, van der Velde-Visser SD, Brunner HG, Black GC, Hoyng CB, Cremers FP.
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| Invest Ophthalmol Vis Sci 47(8):3565-72. 2006
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| 6 | WGN1, VCAN
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| Identification of the genetic defect in the original Wagner syndrome family.
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| Kloeckener-Gruissem B, Bartholdi D, Abdou MT, Zimmermann DR, Berger W.
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| Mol Vis 12:350-5. 2006
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| 7 | VCAN, WGN1
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| Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome.
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| Miyamoto T, Inoue H, Sakamoto Y, Kudo E, Naito T, Mikawa T, Mikawa Y, Isashiki Y, Osabe D, Shinohara S, Shiota H, Itakura M.
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| Invest Ophthalmol Vis Sci 46(8):2726-35. 2005
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| 8 | HAPLN1, VCAN, WVR, WGN1
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| Refined genetic and physical localization of the Wagner disease (WGN1) locus and the genes CRTL1 and CSPG2 to a 2- to 2.5-cM region of chromosome 5q14.3.
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| Perveen R, et al.
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| Genomics 57(2):219-26. 1999
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| 9 | VRD1, WGN1, VCAN
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| A novel hereditary developmental vitreoretinopathy with multiple ocular abnormalities localizing to a 5-cM region of chromosome 5q13-q14.
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| Black GC, Perveen R, Wiszniewski W, Dodd CL, Donnai D, McLeod D.
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| Ophthalmology 106(11):2074-81 1999
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| 10 | WVR, SET, WGN1, VCAN
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| Genetic linkage of Wagner disease and erosive vitreoretinopathy to chromosome 5q13-14.
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| Brown DM, et al.
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| Arch Ophthalmol 113 : 671-675. 1995
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