Article
Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population.
Journal of human genetics - 1 Jul 2022
Sakakibara Nana, Nozu Kandai, Yamamura Tomohiko, Horinouchi Tomoko, Nagano China, Ye Ming Juan, Ishiko Shinya, Aoto Yuya, Rossanti Rini, Hamada Riku, Okamoto Nobuhiko, Shima Yuko, Nakanishi Koichi, Matsuo Masafumi, Iijima Kazumoto, Morisada Naoya
Abstract excerpt
Nephronophthisis is an autosomal-recessive kidney disease that is caused by abnormalities in primary cilia. Nephronophthisis-related ciliopathies (NPHP-RCs) are a common cause of end-stage kidney disease (ESKD) in children and adolescents. NPHP-RCs are often accompanied by extrarenal manifestations, including intellectual disability, retinitis pigmentosa, or polydactyly. Although more than 100 causative genes...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.