Article
Diversity of renal phenotypes in patients with WDR19 mutations: Two case reports.
Nephrology (Carlton, Vic.) - 1 Jul 2017
Yoshikawa Takahisa, Kamei Koichi, Nagata Hiroko, Saida Ken, Sato Mai, Ogura Masao, Ito Shuichi, Miyazaki Osamu, Urushihara Maki, Kondo Shuji, Sugawara Noriko, Ishizuka Kiyonobu, Hamasaki Yuko, Shishido Seiichiro, Morisada Naoya, Iijima Kazumoto, Nagata Michio, Yoshioka Takako, Ogata Kentaro, Ishikura Kenji
Abstract excerpt
WDR19 has been reported as a causative gene of nephronophthisis-related ciliopathies. Patients with WDR19 mutations can show various extrarenal manifestations such as skeletal disorders, Caroli disease, and retinal dystrophy, and typically display nephronophthisis as a renal phenotype. However, there is limited information on the renal phenotypes of patients with WDR19 mutations. We report two Japanese infants...
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