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Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma.
Khan K, Rudkin A, Parry DA, Burdon KP, McKibbin M, Logan CV, Abdelhamed ZI, Muecke JS, Fernandez-Fuentes N, Laurie KJ, Shires M, Fogarty R, Carr IM, Poulter JA, Morgan JE, Mohamed MD, Jafri H, Raashid Y, Meng N, Piseth H, Toomes C, Casson RJ, Taylor GR, Hammerton M, Sheridan E, Johnson CA, Inglehearn CF, Craig JE, Ali M. Khan K, et al. Among authors: casson rj. Am J Hum Genet. 2011 Sep 9;89(3):464-73. doi: 10.1016/j.ajhg.2011.08.005. Am J Hum Genet. 2011. PMID: 21907015 Free PMC article.
Australian and New Zealand Registry of Advanced Glaucoma: methodology and recruitment.
Souzeau E, Goldberg I, Healey PR, Mills RA, Landers J, Graham SL, Grigg JR, Usher B, Straga T, Crawford A, Casson RJ, Morgan WH, Ruddle JB, Coote MA, White A, Stewart J, Hewitt AW, Mackey DA, Burdon KP, Craig JE. Souzeau E, et al. Among authors: casson rj. Clin Exp Ophthalmol. 2012 Aug;40(6):569-75. doi: 10.1111/j.1442-9071.2011.02742.x. Clin Exp Ophthalmol. 2012. PMID: 22171965
Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma.
Gharahkhani P, Burdon KP, Fogarty R, Sharma S, Hewitt AW, Martin S, Law MH, Cremin K, Bailey JNC, Loomis SJ, Pasquale LR, Haines JL, Hauser MA, Viswanathan AC, McGuffin P, Topouzis F, Foster PJ, Graham SL, Casson RJ, Chehade M, White AJ, Zhou T, Souzeau E, Landers J, Fitzgerald JT, Klebe S, Ruddle JB, Goldberg I, Healey PR; Wellcome Trust Case Control Consortium 2, NEIGHBORHOOD consortium; Mills RA, Wang JJ, Montgomery GW, Martin NG, RadfordSmith G, Whiteman DC, Brown MA, Wiggs JL, Mackey DA, Mitchell P, MacGregor S, Craig JE. Gharahkhani P, et al. Among authors: casson rj. Nat Genet. 2014 Oct;46(10):1120-1125. doi: 10.1038/ng.3079. Epub 2014 Aug 31. Nat Genet. 2014. PMID: 25173105 Free PMC article.
225 results