Article
Novel variants in CRB2 targeting the malfunction of slit diaphragm related to focal segmental glomerulosclerosis.
Pediatric nephrology (Berlin, Germany) - 1 Jan 2024
Yang Qing, Tang Dan, Gan Chun, Bai Mi, Song Xiaomei, Jiang Wei, Li Qiu, Chen Yaxi, Zhang Aihua, Wang Mo
Abstract excerpt
BACKGROUND: Focal segmental glomerulosclerosis (FSGS) is a leading cause of steroid-resistant nephrotic syndrome (SRNS) that predominantly affects the podocytes. While mutations in genes causing pediatric SRNS have enhanced our understanding of FSGS, the disease's etiology remains complex and poorly understood. METHODS: Whole exome sequencing (WES) was performed on a 9-year-old girl with SRNS associated with FSGS...
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