Zhelan Huang, Qian Shen, Bingbing Wu, Huijun Wang, Xinran Dong, Yulan Lu, Guoqiang Cheng, Laishuan Wang, Wei Lu, Liping Chen, Wenqing Kang, Long Li, Xinnian Pan, Qiufen Wei, Deyi Zhuang, Dongmei Chen, Zhaoqing Yin, Ling Yang, Qi Ni, Renchao Liu, Gang Li, Ping Zhang, Yanyan Qian, Xiaomin Peng, Yao Wang, Yun Cao, Hong Xu, Liyuan Hu, Lin Yang, Wenhao Zhou
INTRODUCTION: Congenital anomalies of the kidney and urinary tract (CAKUT) corresponds to a spectrum of defects. Several large-cohort studies have used high-throughput sequencing to investigate the genetic risk of CAKUT during antenatal, childhood, and adulthood period. However, our knowledge of newborns with CAKUT is limited. METHODS: This multicenter retrospective cohort study explored the genetic spectrum of CAKUT in a Chinese neonatal cohort. Clinical data and whole exome sequencing (WES) data of 330 newborns clinically diagnosed with CAKUT were collected...
November 2023: KI Reports