TBX6 compound inheritance leads to congenital vertebral malformations in humans and mice

Congenital vertebral malformations (CVMs) are associated with human TBX6 compound inheritance that combines a rare null allele and a common hypomorphic allele at the TBX6 locus. Our previous in vitro evidence suggested that this compound inheritance resulted in a TBX6 gene dosage of less than haploi...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Yang, Nan, Wu, Nan, Zhang, Ling, Zhao, Yanxue, Liu, Jiaqi, Liang, Xiangyu, Ren, Xiaojun, Li, Weiyu, Chen, Weisheng, Dong, Shuangshuang, Zhao, Sen, Lin, Jiachen, Xiang, Hang, Xue, Huadan, Chen, Lu, Sun, Hao, Zhang, Jianguo, Shi, Jiangang, Zhang, Shuyang, Lu, Daru, Wu, Xiaohui, Jin, Li, Ding, Jiandong, Qiu, Guixing, Wu, Zhihong, Lupski, James R, Zhang, Feng
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2019
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General Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6489408/
https://ncbi.nlm.nih.gov/pubmed/30307510
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddy358
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