Associated Papers
Clinical utility of trio whole exome sequencing in fetuses with ultrasound anomalies.
Zeng Z et al.
Human Genomics, 2025
Whole-exome sequencing as the first-tier test for patients in neonatal intensive care unit: a Chinese single-center study.
Zhang R et al.
Bmc Pediatrics, 2024
Possible PKHD1 Hot-spot Mutations Related to Early Kidney Function Failure or Hepatofibrosis in Chinese Children with ARPKD: A Retrospective Single Center Cohort Study and Literature Review.
Qiu LR et al.
Current Medical Science, 2020
[Prenatal diagnosis and genetic counseling in two pedigrees affected with infantile polycystic kidney disease due to PKHD1 gene mutations].
Cao Q et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2019
Clinical characteristics and mutation analysis of three Chinese children with autosomal recessive polycystic kidney disease.
Liu SP et al.
World Journal of Pediatrics : Wjp, 2014
[Gene analysis and literature review of autosomal recessive polycystic kidney disease].
Zhang JW et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2013
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