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TBX6
- Increased TBX6 gene dosages induce congenital cervical vertebral malformations in humans and miceXiaojun Ren, Nan Yang, Nan Wu, Ximing Xu, Weisheng Chen, Ling Zhang, Yingping Li, Ren-Qian Du, Shuangshuang Dong, Sen Zhao, Shuxia Chen, Li-Ping Jiang, Lianlei Wang, Jianguo Zhang, Zhihong Wu, Li Jin, Guixing Qiu, James R Lupski, Jiangang Shi, Feng Zhang, Pengfei LiuJournal of Medical Genetics Jun 2020, 57 (6) 371-379; DOI: 10.1136/jmedgenet-2019-106333
- Bi-allelic loss of function variants of TBX6 causes a spectrum of malformation of spine and rib including congenital scoliosis and spondylocostal dysostosisNao Otomo, Kazuki Takeda, Shunsuke Kawai, Ikuyo Kou, Long Guo, Mitsujiro Osawa, Cantas Alev, Noriaki Kawakami, Noriko Miyake, Naomichi Matsumoto, Yukuto Yasuhiko, Toshiaki Kotani, Teppei Suzuki, Koki Uno, Hideki Sudo, Satoshi Inami, Hiroshi Taneichi, Hideki Shigematsu, Kei Watanabe, Ikuho Yonezawa, Ryo Sugawara, Yuki Taniguchi, Shohei Minami, Kazuo Kaneko, Masaya Nakamura, Morio Matsumoto, Junya Toguchida, Kota Watanabe, Shiro IkegawaJournal of Medical Genetics Sep 2019, 56 (9) 622-628; DOI: 10.1136/jmedgenet-2018-105920
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