Mutational burden and potential oligogenic model of TBX6-mediated genes in congenital scoliosis.,Molecular Genetics & Genomic Medicine

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Mutational burden and potential oligogenic model of TBX6-mediated genes in congenital scoliosis.
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2020-08-20 , DOI: 10.1002/mgg3.1453
Yang Yang _{1,

2} , Sen Zhao _{1,

2} , Yuanqiang Zhang _{1,

2} , Shengru Wang _{1,

2} , Jiashen Shao _{1,

2} , Bowen Liu _{1,

2} , Yaqi Li _{1,

2} , Zihui Yan _{1,

2} , Yuchen Niu _{2,

3} , Xiaoxin Li _{2,

3} , Lianlei Wang _{1,

2} , Yongyu Ye ₄ , Xisheng Weng ₁ , Zhihong Wu _{2,

3,

5} , , Jianguo Zhang _{1,

2,

5} , Nan Wu _{1,

2,

5}

Affiliation

Congenital scoliosis (CS) is a spinal deformity due to vertebral malformations. Although insufficiency of TBX6 dosage contributes to a substantial proportion of CS, the molecular etiology for the majority of CS remains largely unknown. TBX6‐mediated genes involved in the process of somitogenesis represent promising candidates.

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