1 | BCS, COL5A1, ZNF469
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| Population-based meta-analysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thickness.
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| Hoehn R, Zeller T, Verhoeven VJ, Grus F, Adler M, Wolfs RC, Uitterlinden AG, Castagne R, Schillert A, Klaver CC, Pfeiffer N, Mirshahi A.
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| Hum Genet 131(11):1783-93. doi: 10.1007/s00439-012-1201-3. Epub 2012 Jul 20.
2012
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2 | BCS, ZNF469
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| Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness.
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| Lu Y, Dimasi DP, Hysi PG, Hewitt AW, Burdon KP, Toh T, Ruddle JB, Li YJ, Mitchell P, Healey PR, Montgomery GW, Hansell N, Spector TD, Martin NG, Young TL, Hammond CJ, Macgregor S, Craig JE, Mackey DA.
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| PLoS Genet 6(5):e1000947.
2010
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3 | BCS, ZNF469
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| Brittle cornea syndrome associated with a missense mutation in the zinc-finger 469 gene.
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| Christensen AE, Knappskog PM, Midtbø M, Gjesdal CG, Mengel-From J, Morling N, Rødahl E, Boman H.
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| Invest Ophthalmol Vis Sci. 51(1):47-52. 2010
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4 | BCS, ZNF469
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| Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome.
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| Abu A, Frydman M, Marek D, Pras E, Nir U, Reznik-Wolf H, Pras E.
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| Am J Hum Genet 82(5):1217-22. Epub 2008 May 1. 2008
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