Phosphate matters when investigating hypercalcemia: a mutation in SLC34A3 causing HHRH

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare, autosomal recessive disorder caused by mutations in the SLC34A3 gene that encodes the renal sodium-dependent phosphate cotransporter 2c (NaPi-IIc). It may present as intermittent mild hypercalcemia which may attract initial di...

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Detalles Bibliográficos
Autores principales: Tang, Andrew R, Hinz, Laura E, Khan, Aneal, Kline, Gregory A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2019
Materias:
Unique/Unexpected Symptoms or Presentations of a Disease
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6685096/
https://www.ncbi.nlm.nih.gov/pubmed/31352694
http://dx.doi.org/10.1530/EDM-19-0058

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6685096/
https://www.ncbi.nlm.nih.gov/pubmed/31352694
http://dx.doi.org/10.1530/EDM-19-0058

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