Congenital hydrocephalus and hemivertebrae associated with de novo partial monosomy 6q (6q25.3→qter)

по Li, Y, Choy, K-W, Xie, H-N, Chen, M, He, W-Y, Gong, Y-F, Liu, H-Y, Song, Y-Q, Xian, Y-X, Sun, X-F, Chen, X-J
Опубликовано в: Balkan J Med Genet (2015)

TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis

по 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, T., 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.
Опубликовано в: N Engl J Med (2015)