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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: fitzgerald lm. 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.
Identification of a prostate cancer susceptibility gene on chromosome 5p13q12 associated with risk of both familial and sporadic disease.
FitzGerald LM, Patterson B, Thomson R, Polanowski A, Quinn S, Brohede J, Thornton T, Challis D, Mackey DA, Dwyer T, Foote S, Hannan GN, Stankovich J, McKay JD, Dickinson JL. FitzGerald LM, et al. Eur J Hum Genet. 2009 Mar;17(3):368-77. doi: 10.1038/ejhg.2008.171. Epub 2008 Oct 1. Eur J Hum Genet. 2009. PMID: 18830231 Free PMC article.
127 results