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Article

Variable Clinical Presentation of Children with Hereditary Hypophosphatemic Rickets with Hypercalciuria: A Case Series and Review of the Literature.

Hormone research in paediatrics - 1 Jan 2021

Christensen Stephanie, Tebben Peter J, Sas David, Creo Ana L

Abstract excerpt

INTRODUCTION: Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare condition of renal phosphate wasting due to SLC34A3 mutations [Am J Hum Genet. 2006;78(2):193-201]. Patients exhibit low serum phosphorus, high 1,25-dihydroxyvitamin D, and inappropriately high urine phosphate and calcium. However, symptoms vary, and little is known about specific phenotype-genotype correlations. METHODS: We...

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PMID: 34666334
DOI: 10.1159/000520299

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