hereditary hypophosphatemic rickets


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he·red·i·tar·y hy·po·phos·pha·tem·ic rick·ets

with hypercalciuria, an inherited disorder in which there is a defect in renal tubular reabsorption.
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Hereditary hypophosphatemic rickets with hypercalciuria is not caused by mutations in the Na/Pi cotransporter NPT2 gene.
SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis.
Intronic deletions in the SLC34A3 gene: a cautionary tale for mutation analysis of hereditary hypophosphatemic rickets with hypercalciuria.

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