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VSX1: a gene for posterior polymorphous dystrophy and keratoconus.
Héon E, Greenberg A, Kopp KK, Rootman D, Vincent AL, Billingsley G, Priston M, Dorval KM, Chow RL, McInnes RR, Heathcote G, Westall C, Sutphin JE, Semina E, Bremner R, Stone EM. Héon E, et al. Among authors: sutphin je. Hum Mol Genet. 2002 May 1;11(9):1029-36. doi: 10.1093/hmg/11.9.1029. Hum Mol Genet. 2002. PMID: 11978762
Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy.
Biswas S, Munier FL, Yardley J, Hart-Holden N, Perveen R, Cousin P, Sutphin JE, Noble B, Batterbury M, Kielty C, Hackett A, Bonshek R, Ridgway A, McLeod D, Sheffield VC, Stone EM, Schorderet DF, Black GC. Biswas S, et al. Among authors: sutphin je. Hum Mol Genet. 2001 Oct 1;10(21):2415-23. doi: 10.1093/hmg/10.21.2415. Hum Mol Genet. 2001. PMID: 11689488
[The IC3D classification of the corneal dystrophies].
Weiss JS, Møller HU, Lisch W, Kinoshita S, Aldave AJ, Belin MW, Kivelä T, Busin M, Munier FL, Seitz B, Sutphin J, Bredrup C, Mannis MJ, Rapuano C, Van Rij G, Kim EK, Klintworth GK. Weiss JS, et al. Klin Monbl Augenheilkd. 2011 Jan;228 Suppl 1:S1-39. doi: 10.1055/s-0029-1245895. Epub 2011 Feb 2. Klin Monbl Augenheilkd. 2011. PMID: 21290351 German.
The IC3D classification of the corneal dystrophies.
Weiss JS, Møller HU, Lisch W, Kinoshita S, Aldave AJ, Belin MW, Kivelä T, Busin M, Munier FL, Seitz B, Sutphin J, Bredrup C, Mannis MJ, Rapuano CJ, Van Rij G, Kim EK, Klintworth GK. Weiss JS, et al. Cornea. 2008 Dec;27 Suppl 2(Suppl 2):S1-83. doi: 10.1097/ICO.0b013e31817780fb. Cornea. 2008. PMID: 19337156 Free PMC article. Review.
IC3D classification of corneal dystrophies--edition 2.
Weiss JS, Møller HU, Aldave AJ, Seitz B, Bredrup C, Kivelä T, Munier FL, Rapuano CJ, Nischal KK, Kim EK, Sutphin J, Busin M, Labbé A, Kenyon KR, Kinoshita S, Lisch W. Weiss JS, et al. Cornea. 2015 Feb;34(2):117-59. doi: 10.1097/ICO.0000000000000307. Cornea. 2015. PMID: 25564336 Free article.
UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy.
Nickerson ML, Kostiha BN, Brandt W, Fredericks W, Xu KP, Yu FS, Gold B, Chodosh J, Goldberg M, Lu DW, Yamada M, Tervo TM, Grutzmacher R, Croasdale C, Hoeltzenbein M, Sutphin J, Malkowicz SB, Wessjohann L, Kruth HS, Dean M, Weiss JS. Nickerson ML, et al. PLoS One. 2010 May 21;5(5):e10760. doi: 10.1371/journal.pone.0010760. PLoS One. 2010. PMID: 20505825 Free PMC article.
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