Familial hypocalciuric hypercalcemia: grey zones of the differential diagnosis from primary hyperparathyroidism: a case report
Familial hypocalciuric hypercalcemia (FHH) is an autosomal dominant inherited disorder due to inactivating mutations in the calcium-sensing receptor (CaSR), less commonly in the G-protein subunit α11 (GNA11) or the adaptor-related protein complex 2, sigma 1 subunit (AP2S1) genes. It is characterized...
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| Autores principales: | , , |
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| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
Accademia Peloritana dei Pericolanti
2021
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| Materias: | |
| Acceso en línea: | https://doaj.org/article/dfbb0ea72b49440c8655e2c0d9054986 |
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