Hereditary Hypophosphatemic Rickets With Hypercalciuria and Nephrolithiasis—Identification of a Novel SLC34A3/NaPi-IIc Mutation

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is characterized by rickets, hyperphosphaturia, hypophosphatemia, elevated 1,25-dihydroxyvitamin-D, increased gastrointestinal calcium absorption and hypercalciuria. Serum calcium, 25-hydroxyvitamin-D and PTH levels are normal. Here we d...

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Vydáno v:Am J Med Genet A
Hlavní autoři: Phulwani, Priya, Bergwitz, Clemens, Jaureguiberry, Graciana, Rasoulpour, Majjid, Estrada, Elizabeth
Médium: Artigo
Jazyk:Inglês
Vydáno: 2011
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4777326/
https://ncbi.nlm.nih.gov/pubmed/21344632
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33832
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