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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Bioscientifica Ltd
2019
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| Materias: | |
| 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 |