Article
Long-term clinicopathologic observation in a case of steroid-resistant nephrotic syndrome caused by a novel Crumbs homolog 2 mutation.
Nephrology (Carlton, Vic.) - 1 Jul 2018
Watanabe Shojiro, Aizawa Tomomi, Tsukaguchi Hiroyasu, Tsugawa Koji, Tsuruga Kazushi, Shono Akemi, Nozu Kandai, Iijima Kazumoto, Joh Kensuke, Tanaka Hiroshi
Abstract excerpt
Recent advances in high-throughput sequencing for clinical genetic testing have revealed novel disease-causing genes, such as Crumbs homolog 2 (CRB2) for early-onset steroid-resistant nephrotic syndrome (SRNS). We report the long-term clinicopathologic observation of a Japanese female patient with SRNS caused by a newly identified compound heterozygous mutation of CRB2 (p.Arg628Cys and p.Gly839Trp located in the...
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