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SOX10 mutation in Waardenburg syndrome type II.
Iso M, Fukami M, Horikawa R, Azuma N, Kawashiro N, Ogata T. Iso M, et al. Am J Med Genet A. 2008 Aug 15;146A(16):2162-3. doi: 10.1002/ajmg.a.32403. Am J Med Genet A. 2008. PMID: 18627047 No abstract available.
Mutation and gene copy number analyses of six pituitary transcription factor genes in 71 patients with combined pituitary hormone deficiency: identification of a single patient with LHX4 deletion.
Dateki S, Fukami M, Uematsu A, Kaji M, Iso M, Ono M, Mizota M, Yokoya S, Motomura K, Kinoshita E, Moriuchi H, Ogata T. Dateki S, et al. Among authors: iso m. J Clin Endocrinol Metab. 2010 Aug;95(8):4043-7. doi: 10.1210/jc.2010-0150. Epub 2010 Jun 9. J Clin Endocrinol Metab. 2010. PMID: 20534763
GATA3 abnormalities in six patients with HDR syndrome.
Fukami M, Muroya K, Miyake T, Iso M, Kato F, Yokoi H, Suzuki Y, Tsubouchi K, Nakagomi Y, Kikuchi N, Horikawa R, Ogata T. Fukami M, et al. Among authors: iso m. Endocr J. 2011;58(2):117-21. doi: 10.1507/endocrj.k10e-234. Epub 2011 Jan 13. Endocr J. 2011. PMID: 21242646 Free article.
33 results