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A novel missense mutation of TNNI2 in a Chinese family cause distal arthrogryposis type 1
Authors:Bo Wang  Zhaojing Zheng  Zhigang Wang  Xiaoqing Zhang  Haiou Yang  Haiqing Cai  Qihua Fu
Affiliation:1. Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, P.R. China;2. Department of Pediatric Orthopedic, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, P.R. China;3. Correspondence to:;4. Haiqing Cai, Department of Pediatric Orthopedic, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, P.R. China.;5. E‐mail:;6. Qihua Fu, Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, P.R. China.;7. E‐mail:
Abstract:
Keywords:whole exome sequencing  mutation  distal arthrogryposis  TNNI2
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