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Article

SLC34A3 Intronic Deletion in an Iranian Kindred with Hereditary Hypophosphatemic Rickets with Hypercalciuria

Journal of clinical research in pediatric endocrinology - 29 Nov 2018

Hasani-Ranjbar Shirin, Ejtahed Hanieh-Sadat, Amoli Mahsa M., Bitarafan Fatemeh, Qorbani Mostafa, Soltani Akbar, Yarjoo Bahareh

Abstract excerpt

Objective: To describe clinical findings, biochemical profile and genetic analysis in an Iranian kindred with hereditary hypophosphatemic rickets with hypercalciuria (HHRH). Methods: Clinical examination and biochemical profile results and gene analysis of 12 members of a family of a patient previously diagnosed with HHRH due to SLC34A3 mutation. Ten healthy controls were also evaluated. Results: Of the twelve...

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Identifiers

PMID: 29809158
DOI: 10.4274/jcrpe.0057
PMCID: PMC6280320

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