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

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 previou...

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Veröffentlicht in:J Clin Res Pediatr Endocrinol
Hauptverfasser: Hasani-Ranjbar, Shirin, Ejtahed, Hanieh-Sadat, Amoli, Mahsa M., Bitarafan, Fatemeh, Qorbani, Mostafa, Soltani, Akbar, Yarjoo, Bahareh
Format: Artigo
Sprache:Inglês
Veröffentlicht: Galenos Publishing 2018
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Original Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6280320/
https://ncbi.nlm.nih.gov/pubmed/29809158
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.0057
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