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Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome

Nan Yang, Nan Wu, Shuangshuang Dong, Ling Zhang, Yanxue Zhao, Wei‐Sheng Chen, Renqian Du, Chengcheng Song, Xiaojun Ren, Jiaqi Liu, Davut Pehli̇van, Zhenlei Liu, Jia Rao, Chunyan Wang, Sen Zhao, Amy M. Breman, Huadan Xue, Hao Sun, Jianxiong Shen, Shuyang Zhang, Jennifer E. Posey, Hong Xu, Jin Li, Jianguo Zhang, Pengfei Liu, Simone Sanna‐Cherchi, Guixing Qiu, Zhihong Wu, James R. Lupski, Feng Zhang

2020Kidney International34 citationsDOIOpen Access PDF

Topics & Concepts

HaploinsufficiencyAlleleNull alleleCompound heterozygosityGeneticsKidney diseaseKidneyMedicineBiologyInternal medicineGenePhenotypeRenal and related cancersRenal cell carcinoma treatmentGenetic and Kidney Cyst Diseases
Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome | Litcius