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Whole-exome sequencing in the evaluation of fetal congenital anomalies of the kidney and urinary tract detected by ultrasonography.
Prenatal Diagnosis ( IF 3 ) Pub Date : 2020-05-21 , DOI: 10.1002/pd.5737
Ting-Ying Lei 1 , Fang Fu 2 , Ru Li 2 , Qiu-Xia Yu 2 , Kun Du 1 , Wen-Wen Zhang 2 , Qiong Deng 1 , Lu-Shan Li 1 , Dan Wang 2 , Xin Yang 1 , Li Zhen 1 , Dong-Zhi Li 1 , Can Liao 1
Affiliation  

We aimed to investigate the value of whole‐exome sequencing (WES) in fetuses with congenital anomalies of the kidney and urinary tract (CAKUT) with or without other structural anomalies but with normal findings upon karyotyping and chromosome microarray analysis (CMA).

中文翻译:

全外显子组测序评估超声检测到的肾脏和泌尿道胎儿先天性异常。

我们旨在研究全外显子组测序 (WES) 在先天性肾脏和泌尿道异常 (CAKUT) 胎儿中的价值,这些胎儿有或没有其他结构异常,但核型分析和染色体微阵列分析 (CMA) 发现正常。
更新日期:2020-05-21
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