American Physiological Society, American Journal of Physiology - Renal Physiology, 6(311), p. F1243-F1252, 2016
DOI: 10.1152/ajprenal.00211.2016
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Nephrocalcinosis describes the ectopic deposition of calcium salts in the kidney parenchyma. Nephrocalcinosis can result from a number of acquired causes but also an even greater number of genetic diseases, predominantly renal but also extrarenal. Here we provide a review of the genetic causes of nephrocalcinosis, along with putative mechanisms, illustrated by human and animal data.