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Article

SLC34A3 intronic deletion in a new kindred with hereditary hypophosphatemic rickets with hypercalciuria.

Journal of clinical research in pediatric endocrinology - 1 Jun 2012

Hasani-Ranjbar Shirin, Amoli Mahsa M, Ebrahim-Habibi Azadeh, Dehghan Ehsan, Soltani Akbar, Amiri Parvin, Larijani Bagher

Abstract excerpt

OBJECTIVE: Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is an autosomal recessive form of hypophosphatemia with hyperphosphaturia, hypercalciuria, and hypercalcemia. In two reports on six affected kindreds with HHRH, the disease was mapped to chromosome 9q34, which contains the SLC34A3 gene that encodes the renal type 2c sodium-phosphate cotransporter. Our objective was to define the clinical...

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Identifiers

PMID: 22672866
DOI: 10.4274/jcrpe.601
PMCID: PMC3386779

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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