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Bi-allelic loss of function variants of TBX6 causes a spectrum of malformation of spine and rib including congenital scoliosis and spondylocostal dysostosis.
Otomo N, Takeda K, Kawai S, Kou I, Guo L, Osawa M, Alev C, Kawakami N, Miyake N, Matsumoto N, Yasuhiko Y, Kotani T, Suzuki T, Uno K, Sudo H, Inami S, Taneichi H, Shigematsu H, Watanabe K, Yonezawa I, Sugawara R, Taniguchi Y, Minami S, Kaneko K, Nakamura M, Matsumoto M, Toguchida J, Watanabe K, Ikegawa S. Otomo N, et al. Among authors: yasuhiko y. J Med Genet. 2019 Sep;56(9):622-628. doi: 10.1136/jmedgenet-2018-105920. Epub 2019 Apr 22. J Med Genet. 2019. PMID: 31015262
Transgenic analysis of the medaka mesp-b enhancer in somitogenesis.
Terasaki H, Murakami R, Yasuhiko Y, Shin-I T, Kohara Y, Saga Y, Takeda H. Terasaki H, et al. Among authors: yasuhiko y. Dev Growth Differ. 2006 Apr;48(3):153-68. doi: 10.1111/j.1440-169X.2006.00853.x. Dev Growth Differ. 2006. PMID: 16573733
23 results