Bi-allelic loss of function variants of TBX6 causes a spectrum of malformation of spine and rib including congenital scoliosis and spondylocostal dysostosis

Nao 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 Ikegawa

doi:10.1136/jmedgenet-2018-105920

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Genotype-phenotype correlations

Original article

Bi-allelic loss of function variants of TBX6 causes a spectrum of malformation of spine and rib including congenital scoliosis and spondylocostal dysostosis

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