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Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.
Nakajima M, Mizumoto S, Miyake N, Kogawa R, Iida A, Ito H, Kitoh H, Hirayama A, Mitsubuchi H, Miyazaki O, Kosaki R, Horikawa R, Lai A, Mendoza-Londono R, Dupuis L, Chitayat D, Howard A, Leal GF, Cavalcanti D, Tsurusaki Y, Saitsu H, Watanabe S, Lausch E, Unger S, Bonafé L, Ohashi H, Superti-Furga A, Matsumoto N, Sugahara K, Nishimura G, Ikegawa S. Nakajima M, et al. Among authors: horikawa r. Am J Hum Genet. 2013 Jun 6;92(6):927-34. doi: 10.1016/j.ajhg.2013.04.003. Epub 2013 May 9. Am J Hum Genet. 2013. PMID: 23664117 Free PMC article.
Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients.
Fukami M, Horikawa R, Nagai T, Tanaka T, Naiki Y, Sato N, Okuyama T, Nakai H, Soneda S, Tachibana K, Matsuo N, Sato S, Homma K, Nishimura G, Hasegawa T, Ogata T. Fukami M, et al. Among authors: horikawa r. J Clin Endocrinol Metab. 2005 Jan;90(1):414-26. doi: 10.1210/jc.2004-0810. Epub 2004 Oct 13. J Clin Endocrinol Metab. 2005. PMID: 15483095
Clinical features and management of organic acidemias in Japan.
Fujisawa D, Nakamura K, Mitsubuchi H, Ohura T, Shigematsu Y, Yorifuji T, Kasahara M, Horikawa R, Endo F. Fujisawa D, et al. Among authors: horikawa r. J Hum Genet. 2013 Dec;58(12):769-74. doi: 10.1038/jhg.2013.97. Epub 2013 Sep 26. J Hum Genet. 2013. PMID: 24067294
Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients.
Kagami M, Nagasaki K, Kosaki R, Horikawa R, Naiki Y, Saitoh S, Tajima T, Yorifuji T, Numakura C, Mizuno S, Nakamura A, Matsubara K, Fukami M, Ogata T. Kagami M, et al. Among authors: horikawa r. Genet Med. 2017 Dec;19(12):1356-1366. doi: 10.1038/gim.2017.53. Epub 2017 May 31. Genet Med. 2017. PMID: 28640239 Free PMC article.
254 results