HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA: A NOVEL HOMOZYGOUS MUTATION IN SLC34A3 AND LITERATURE REVIEW

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 severe ricke...

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Detalhes bibliográficos
Publicado no:AACE Clin Case Rep
Main Authors: Bhadada, Sanjay K., Sridhar, Subbiah, Dhiman, Vandana, Wong, Karen, Bennetts, Bruce, Naot, Dorit, Jayaraman, Sangumani, Cundy, Tim
Formato: Artigo
Idioma:Inglês
Publicado em: American Association of Clinical Endocrinologists 2020
Assuntos:
Case Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7282280/
https://ncbi.nlm.nih.gov/pubmed/32524022
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4158/ACCR-2019-0456
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