Whole-exome sequencing in the evaluation of fetal congenital anomalies of the kidney and urinary tract detected by ultrasonography.
Ting-Ying LeiFang FuRu LiQiu-Xia YuKun DuWen-Wen ZhangQiong DengLu-Shan LiDan WangXin YangLi ZhenDong-Zhi LiLiao CanPublished in: Prenatal diagnosis (2020)
Our study is the largest to use WES prenatally for CAKUT and shows that WES can be used diagnostically to define the molecular defects that underlie unexplained CAKUT.
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