Article
Rare renal ciliopathies in non-consanguineous families that were identified by targeted resequencing.
Clinical and experimental nephrology - 1 Feb 2017
Yamamura Tomohiko, Morisada Naoya, Nozu Kandai, Minamikawa Shogo, Ishimori Shingo, Toyoshima Daisaku, Ninchoji Takeshi, Yasui Masato, Taniguchi-Ikeda Mariko, Morioka Ichiro, Nakanishi Koichi, Nishio Hisahide, Iijima Kazumoto
Abstract excerpt
BACKGROUND: Nephronophthisis-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. METHODS: We studied three Japanese female patients with renal insufficiency from...
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