Hypophosphatemic Rickets with Hypercalciuria: A Novel Homozygous Mutation in SLC34A3 and Literature Review

Hypophosphatemic Rickets with Hypercalciuria: A Novel Homozygous Mutation in SLC34A3 and Literature Review

ABSTRACT: Objective: Hypophosphatemic rickets with hypercalciuria (HHRH) is a rare, recessively-inherited form of rickets caused by homozygous or compound heterozygous mutations in the SLC34A3 gene that encodes the renal tubular phosphate transporter protein NaPi2c. The bone phenotype varies from s...

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Bibliographic Details
Main Authors: Sanjay K. Bhadada, MD, DM, Subbiah Sridhar, MD, DM, Vandana Dhiman, PhD, Karen Wong, PhD, Bruce Bennetts, PhD, Dorit Naot, PhD, Sangumani Jayaraman, MD, Tim Cundy, MD
Format: Article
Language:English
Published: Elsevier 2020-05-01
Series:AACE Clinical Case Reports
Online Access:http://www.sciencedirect.com/science/article/pii/S2376060520300171

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http://www.sciencedirect.com/science/article/pii/S2376060520300171

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