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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: toguchida j. 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
Heterozygous mutations in the straitjacket region of the latency-associated peptide domain of TGFB2 cause Camurati-Engelmann disease type II.
Wang Z, Kometani M, Zeitlin L, Wilnai Y, Kinoshita A, Yoshiura KI, Ninomiya H, Imamura T, Guo L, Xue J, Yan L, Ohashi H, Pretemer Y, Kawai S, Shiina M, Ogata K, Cohn DH, Matsumoto N, Nishimura G, Toguchida J, Miyake N, Ikegawa S. Wang Z, et al. Among authors: toguchida j. J Hum Genet. 2024 Nov;69(11):599-605. doi: 10.1038/s10038-024-01274-1. Epub 2024 Jul 16. J Hum Genet. 2024. PMID: 39014191
207 results