A Partial UMOD Deletion Results in Altered Uromodulin Synthesis and Autosomal-Dominant Tubulointerstitial Kidney Disease-Uromodulin
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Autosomal dominant tubulointerstitial kidney disease-uromodulin (ADTKD-UMOD) is classically due to missense variants in UMOD that display a dominant-negative effect. Here, we describe a family with high clinical suspicion for ADTKD-UMOD for which no molecular ... ...
