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Article

Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis-identification of a novel SLC34A3/NaPi-IIc mutation.

American journal of medical genetics. Part A - 1 Mar 2011

Phulwani Priya, Bergwitz Clemens, Jaureguiberry Graciana, Rasoulpour Majjid, Estrada Elizabeth

Abstract excerpt

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 w...

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Source

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Identifiers

PMID: 21344632
DOI: 10.1002/ajmg.a.33832
PMCID: PMC4777326

Genes

PTH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21344632-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis-identification of a novel SLC34A3/NaPi-IIc mutation.PMID 21344632Read ↗

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