A Novel CLCN5 Splice Site Mutation in a Boy with Incomplete Phenotype of Dent Disease
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Dent disease is a rare X-linked renal proximal tubulopathy presenting with low-molecular-weight proteinuria (LMWP), hypercalciuria, and nephrocalcinosis, other signs of incomplete renal Fanconi syndrome, and renal failure. Early identification of patients who ... ...
