Rare renal ciliopathies in non-consanguineous families that were identified by targeted resequencing

@article{Yamamura2016RareRC,
  title={Rare renal ciliopathies in non-consanguineous families that were identified by targeted resequencing},
  author={Tomohiko Yamamura and Naoya Morisada and Kandai Nozu and Shogo Minamikawa and Shingo Ishimori and Daisaku Toyoshima and Takeshi Ninchoji and Masato Yasui and M Taniguchi-Ikeda and Ichiro Morioka and Koichi Nakanishi and Hisahide Nishio and Kazumoto Iijima},
  journal={Clinical and Experimental Nephrology},
  year={2016},
  volume={21},
  pages={136-142}
}
BackgroundNephronophthisis-related ciliopathies (NPHP-RC) are a frequent cause of renal failure for children and adolescents. Although diagnosing these diseases clinically is difficult, a comprehensive genetic screening approach of targeted resequencing can uncover the genetic background in this complicated family of diseases.MethodsWe studied three Japanese female patients with renal insufficiency from non-consanguineous parents. A renal biopsy for clinical reasons was not performed. Therefore… CONTINUE READING
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