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: Rosaria M. Ruggeri, Alfredo Campennì, Salvatore Cannavò
Formato: article
Lenguaje:EN
Publicado: Accademia Peloritana dei Pericolanti 2021
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Acceso en línea:https://doaj.org/article/dfbb0ea72b49440c8655e2c0d9054986
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