Prenatal diagnosis
Clinical and Molecular Features of Ciliopathies Diagnosed by Prenatal Exome Sequencing in Fetuses With Ultrasound Abnormalities.
Xiaofan Zhu, Qiaowei Zhang, Zhi Gao, Huanan Ren, Shuwen Xue, Gege Sun, Ning Liu, Zhihui Jiao, Xiangdong Kong
Published: 202510.1002/pd.70053
Abstract
OBJECTIVE: To characterize prenatal phenotypes and genetic basis of ciliopathies identified by prenatal exome sequencing (pES) in fetuses with ultrasound abnormalities. METHOD: Singleton pregnancies who underwent pES due to fetal ultrasound abnormali…
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