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Disease-causing mutations in the protocadherin have been recently described both in patients with a glomerulotubular nephropathy and in patients with a syndromic nephropathy. We identified 4 patients with -associated disease, performed clinical and genetic characterization, and compared our findings to the previously published patients. Patient-derived primary urinary epithelial cells were analyzed by quantitative polymerase chain reaction (qPCR) and immunoblotting to identify possible alterations in Hippo signaling. Here we expand the spe