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Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.
Burdon KP, McKay JD, Sale MM, Russell-Eggitt IM, Mackey DA, Wirth MG, Elder JE, Nicoll A, Clarke MP, FitzGerald LM, Stankovich JM, Shaw MA, Sharma S, Gajovic S, Gruss P, Ross S, Thomas P, Voss AK, Thomas T, Gécz J, Craig JE. Burdon KP, et al. Among authors: craig je. Am J Hum Genet. 2003 Nov;73(5):1120-30. doi: 10.1086/379381. Epub 2003 Oct 16. Am J Hum Genet. 2003. PMID: 14564667 Free PMC article.
Central corneal thickness is highly heritable: the twin eye studies.
Toh T, Liew SH, MacKinnon JR, Hewitt AW, Poulsen JL, Spector TD, Gilbert CE, Craig JE, Hammond CJ, Mackey DA. Toh T, et al. Among authors: craig je. Invest Ophthalmol Vis Sci. 2005 Oct;46(10):3718-22. doi: 10.1167/iovs.04-1497. Invest Ophthalmol Vis Sci. 2005. PMID: 16186354 Free article.
Familial transmission risk of infantile glaucoma in Australia.
Hewitt AW, MacKinnon JR, Giubilato A, Elder JE, Craig JE, Mackey DA. Hewitt AW, et al. Among authors: craig je. Ophthalmic Genet. 2006 Sep;27(3):93-7. doi: 10.1080/13816810600870843. Ophthalmic Genet. 2006. PMID: 17050285
407 results