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Article

Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report.

Orphanet journal of rare diseases - 14 Jan 2010

Mejia-Gaviria Natalia, Gil-Peña Helena, Coto Eliecer, Pérez-Menéndez Teresa M, Santos Fernando

Abstract excerpt

Hereditary hypophosphatemic rickets with hypercalciuria is a rare autosomal recessive disorder (OMIM #241530), characterized by decreased renal phosphate reabsorption that leads to hypophosphatemia, rickets, and bone pain; hypophosphatemia is believed to stimulate 1,25 dihydroxyvitamin D synthesi...

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Identifiers

PMID: 20074341
DOI: 10.1186/1750-1172-5-1
PMCID: PMC2821378

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20074341-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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