Renal hypodysplasia associates with a WNT4 variant that causes aberrant canonical WNT signaling
A Vivante, M Mark-Danieli, M Davidovits… - Journal of the …, 2013 - journals.lww.com
Abnormal differentiation of the renal stem/progenitor pool into kidney tissue can lead to renal
hypodysplasia (RHD), but the underlying causes of RHD are not well understood. In this
multicenter study, we identified 20 Israeli pedigrees with isolated familial, nonsyndromic
RHD and screened for mutations in candidate genes involved in kidney development,
including PAX2, HNF1B, EYA1, SIX1, SIX2, SALL1, GDNF, WNT4, and WT1. In addition to
previously reported RHD-causing genes, we found that two affected brothers were …
hypodysplasia (RHD), but the underlying causes of RHD are not well understood. In this
multicenter study, we identified 20 Israeli pedigrees with isolated familial, nonsyndromic
RHD and screened for mutations in candidate genes involved in kidney development,
including PAX2, HNF1B, EYA1, SIX1, SIX2, SALL1, GDNF, WNT4, and WT1. In addition to
previously reported RHD-causing genes, we found that two affected brothers were …
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