Whole-exome sequencing for prenatal diagnosis of fetuses with congenital anomalies of the kidney and urinary tract | Zendy

Tingying Lei | Zendy; Fang Fu | Zendy; Ru Li | Zendy; Dan Wang | Zendy; Rong-Yue Wang | Zendy; Xiangyi Jing | Zendy; Qiong Deng | Zendy; Zhou-zhou Li | Zendy; Zequn Liu | Zendy; Xin Yang | Zendy; DongZhi Li | Zendy; Can Liao | Zendy

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Whole-exome sequencing for prenatal diagnosis of fetuses with congenital anomalies of the kidney and urinary tract

Author(s) -

Tingying Lei,

Fang Fu,

Ru Li,

Dan Wang,

Rong-Yue Wang,

Xiangyi Jing,

Qiong Deng,

Zhou-zhou Li,

Zequn Liu,

Xin Yang,

DongZhi Li,

Can Liao

Publication year - 2017

Publication title -

nephrology dialysis transplantation

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.654

H-Index - 168

eISSN - 1460-2385

pISSN - 0931-0509

DOI - 10.1093/ndt/gfx031

Subject(s) - medicine , exome sequencing , urinary system , prenatal diagnosis , fetus , kidney , obstetrics , pregnancy , genetics , mutation , gene , biology

In the absence of cytogenetic abnormality, fetuses with congenital anomalies of the kidney and urinary tract (CAKUT) with/without other structural anomalies show a higher likelihood of monogenic causes; however, defining the underlying pathology can be challenging. Here, we investigate the value of whole-exome sequencing (WES) in fetuses with CAKUT but normal findings upon karyotyping and chromosome microarray analysis.

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