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TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis

BACKGROUND: Congenital scoliosis is a common type of vertebral malformation. Genetic susceptibility has been implicated in congenital scoliosis. METHODS: We evaluated 161 Han Chinese persons with sporadic congenital scoliosis, 166 Han Chinese controls, and 2 pedigrees, family members of which had a...

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Publicat a:N Engl J Med
Autors principals: Wu, N., Ming, X., Xiao, J., Wu, Z., Chen, X., Shinawi, M., Shen, Y., Yu, G., Liu, J., Xie, H., Gucev, Z.S., Liu, S., Yang, N., Al-Kateb, H., Chen, J., Zhang, Jian, Hauser, N., Zhang, T., Tasic, V., Liu, P., Su, X., Pan, X., Liu, C., Wang, L., Shen, Joseph, Shen, Jianxiong, Chen, Y., Zhang, Jianguo, Choy, K.W., Wang, Jun, Wang, Q., Li, S., Zhou, W., Guo, J., Wang, Y., Zhang, C., Zhao, H., An, Y., Zhao, Y., Wang, Jiucun, Liu, Z., Zuo, Y., Tian, Y., Weng, X., Sutton, V.R., Wang, H., Ming, Y., Kulkarni, S., Zhong, T.P., Giampietro, P.F., Dunwoodie, S.L., Cheung, S.W., Zhang, X., Jin, L., Lupski, J.R., Qiu, G., Zhang, F.
Format: Artigo
Idioma:Inglês
Publicat: 2015
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4326244/
https://ncbi.nlm.nih.gov/pubmed/25564734
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1056/NEJMoa1406829
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