Article
TBX6 null variants and a common hypomorphic allele in congenital scoliosis.
The New England journal of medicine - 22 Jan 2015
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 J, Hauser N, Zhang T, Tasic V, Liu P, Su X, Pan X, Liu C, Wang L, Shen J, Shen J, Chen Y, Zhang T, Zhang J, Choy K W, Wang J, Wang Q, Li S, Zhou W, Guo J, Wang Y, Zhang C, Zhao Hong, An Yu, Zhao Yu, Wang J, 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
Abstract excerpt
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 16p11.2 deletion, using comparative genomic hybridization, quantitative polymerase-chain-reaction analysis, and DNA...
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