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Page 1
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
Response to Lefebvre et al.
Takeda K, Kou I, Kawakami N, Yasuhiko Y, Ogura Y, Imagawa E, Miyake N, Matsumoto N, Sudo H, Kotani T; Japan Early Onset Scoliosis Research Group; Nakamura M, Matsumoto M, Watanabe K, Ikegawa S. Takeda K, et al. Among authors: yasuhiko y. Clin Genet. 2017 Nov;92(5):563-564. doi: 10.1111/cge.13011. Clin Genet. 2017. PMID: 28990171
Compound Heterozygosity for Null Mutations and a Common Hypomorphic Risk Haplotype in TBX6 Causes Congenital Scoliosis.
Takeda K, Kou I, Kawakami N, Iida A, Nakajima M, Ogura Y, Imagawa E, Miyake N, Matsumoto N, Yasuhiko Y, Sudo H, Kotani T; Japan Early Onset Scoliosis Research Group; Nakamura M, Matsumoto M, Watanabe K, Ikegawa S. Takeda K, et al. Among authors: yasuhiko y. Hum Mutat. 2017 Mar;38(3):317-323. doi: 10.1002/humu.23168. Epub 2017 Jan 18. Hum Mutat. 2017. PMID: 28054739
23 results