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Article

Genetic variants of TBX6 and TBXT identified in patients with congenital scoliosis in Southern China.

Journal of orthopaedic research : official publication of the Orthopaedic Research Society - 1 May 2021

Feng Xin, Cheung Jason Pui Yin, Je Jimmy S H, Cheung Prudence W H, Chen Shuxia, Yue Ming, Wang Ni, Choi Vanessa N T, Yang Xueyan, Song You-Qiang, Luk Keith D K, Gao Bo

Abstract excerpt

Congenital scoliosis (CS) is a spinal deformity present at birth due to underlying congenital vertebral malformation (CVM) that occurs during embryonic development. Hemivertebrae is the most common anomaly that causes CS. Recently, compound heterozygosity in TBX6 has been identified in Northern Chinese, Japanese, and European CS patient cohorts, which explains about 7%-10% of the affected population. In this...

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PMID: 32672867
DOI: 10.1002/jor.24805

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