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TBX6 polymorphism is associated with congenital scoliosis

2018-04-03 14:33:09

The single SNP analysis showed allele frequency of rs2289292 (exon 8, the only tagging SNP) and rs3809624 (5’untranslated region) demonstrated significant difference between CS cases and controls (P = 0.017 and P = 0.033),which suggests genetic variants of TBX6 gene is associated with CS.

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Department of orthopedic surgery, Peking Union Medical College Hospital (PUMCH), Peking Union Medical College (PUMC) & Chinese Academy of Medical Sciences (CAMS)

Beijing Key Laboratory for Genetic Research of Skeletal Deformity

Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences

Tel: +86-10-69152809

E-mail: dr.wunan@pumch.cn

Address: Department of orthopedic surgery, Peking Union Medical College Hospital, No.1 Shuaifuyuan, Dongcheng District, Beijing 100730, China

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