TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease

Congenital scoliosis (CS) is a birth defect with variable clinical and anatomical manifestations due to a spinal malformation. The genetic etiology underlying about 10% of CS cases in the Chinese population is compound inheritance by which the gene dosage is reduced below that of haploinsufficiency....

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Bibliografiset tiedot
Julkaisussa:Hum Mutat
Päätekijät: Chen, Weisheng, Lin, Jiachen, Wang, Lianlei, Li, Xiaoxin, Zhao, Sen, Liu, Jiaqi, Akdemir, Zeynep Coban, Zhao, Yanxue, Du, Renqian, Ye, Yongyu, Song, Xiaofei, Zhang, Yuanqiang, Yan, Zihui, Yang, Xinzhuang, Lin, Mao, Shen, Jianxiong, Wang, Shengru, Gao, Na, Yang, Ying, Liu, Ying, Li, Wenli, Liu, Jia, Zhang, Na, Yang, Xu, Xu, Yuan, Zhang, Jianguo, Delgado, Mauricio R., Posey, Jennifer E., Qiu, Guixing, Rios, Jonathan J., Liu, Pengfei, Wise, Carol A., Zhang, Feng, Wu, Zhihong, Lupski, James R., Wu, Nan
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2019
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Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC7061259/
https://ncbi.nlm.nih.gov/pubmed/31471994
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23907
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