Article
Defects of CRB2 cause steroid-resistant nephrotic syndrome.
American journal of human genetics - 8 Jan 2015
Ebarasi Lwaki, Ashraf Shazia, Bierzynska Agnieszka, Gee Heon Yung, McCarthy Hugh J, Lovric Svjetlana, Sadowski Carolin E, Pabst Werner, Vega-Warner Virginia, Fang Humphrey, Koziell Ania, Simpson Michael A, Dursun Ismail, Serdaroglu Erkin, Levy Shawn, Saleem Moin A, Hildebrandt Friedhelm, Majumdar Arindam
Abstract excerpt
Nephrotic syndrome (NS), the association of gross proteinuria, hypoalbuminaemia, edema, and hyperlipidemia, can be clinically divided into steroid-sensitive (SSNS) and steroid-resistant (SRNS) forms. SRNS regularly progresses to end-stage renal failure. By homozygosity mapping and whole exome sequencing, we here identify recessive mutations in Crumbs homolog 2 (CRB2) in four different families affected by SRNS....
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