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BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.
Hilton E, Johnston J, Whalen S, Okamoto N, Hatsukawa Y, Nishio J, Kohara H, Hirano Y, Mizuno S, Torii C, Kosaki K, Manouvrier S, Boute O, Perveen R, Law C, Moore A, Fitzpatrick D, Lemke J, Fellmann F, Debray FG, Dastot-Le-Moal F, Gerard M, Martin J, Bitoun P, Goossens M, Verloes A, Schinzel A, Bartholdi D, Bardakjian T, Hay B, Jenny K, Johnston K, Lyons M, Belmont JW, Biesecker LG, Giurgea I, Black G. Hilton E, et al. Among authors: torii c. Eur J Hum Genet. 2009 Oct;17(10):1325-35. doi: 10.1038/ejhg.2009.52. Epub 2009 Apr 15. Eur J Hum Genet. 2009. PMID: 19367324 Free PMC article.
EEC syndrome-like phenotype in a patient with an IRF6 mutation.
Kosaki R, Kaneko T, Torii C, Kosaki K. Kosaki R, et al. Among authors: torii c. Am J Med Genet A. 2012 May;158A(5):1219-20. doi: 10.1002/ajmg.a.35273. Epub 2012 Apr 9. Am J Med Genet A. 2012. PMID: 22488974 No abstract available.
Monozygotic twins of Rubinstein-Taybi syndrome discordant for glaucoma.
Kosaki R, Fujita H, Takada H, Okada M, Torii C, Kosaki K. Kosaki R, et al. Among authors: torii c. Am J Med Genet A. 2011 May;155A(5):1189-91. doi: 10.1002/ajmg.a.33967. Epub 2011 Apr 7. Am J Med Genet A. 2011. PMID: 21480480 No abstract available.
57 results