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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محفوظ في:
التفاصيل البيبلوغرافية
الحاوية / القاعدة:Hum Mutat
المؤلفون الرئيسيون: 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
التنسيق: Artigo
اللغة:Inglês
منشور في: 2019
الموضوعات:
Article
الوصول للمادة أونلاين: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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