Article
Genotype-phenotype analysis of pediatric patients with WT1 glomerulopathy.
Pediatric nephrology (Berlin, Germany) - 1 Jan 2017
Ahn Yo Han, Park Eu Jin, Kang Hee Gyung, Kim Seong Heon, Cho Hee Yeon, Shin Jae Il, Lee Joo Hoon, Park Young Seo, Kim Kyo Sun, Ha Il-Soo, Cheong Hae Il
Abstract excerpt
BACKGROUND: WT1 is one of the genes commonly reported as mutated in children with steroid-resistant nephrotic syndrome (SRNS). We analyzed genotype-phenotype correlations in pediatric SRNS patients with WT1 mutations. METHODS: From 2001 to 2015, WT1 mutations were detected in 21 out of 354 children with SRNS by genetic screening (5.9 %). The patients were grouped into missense (n = 11) and KTS splicing (n = 10)...
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