Open access
Sep 2026
Digenic disease causing variants in a patient with severe nephrocalcinosis
Nephrocalcinosis and cystinuria are two distinct kidney disorders. Nephrocalcinosis is the abnormal, generalised deposition of calcium salts, primarily calcium phosphate or calcium oxalate, within the kidney's parenchyma, and has multiple causes including metabolic disorders, monogenic kidney diseases and medications....
Caitlin Pollock, R. Geraghty, Holly R. Mabillard et al.
· Journal of Rare Diseases · 0 citations