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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Hauptverfasser:	Rosaria M. Ruggeri, Alfredo Campennì, Salvatore Cannavò
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	Accademia Peloritana dei Pericolanti 2021-08-01
Schriftenreihe:	Atti della Accademia Peloritana dei Pericolanti - Classe di Scienze Medico-Biologiche
Schlagworte:	hypercalcemia familial hypocalciuric hypercalcemia primary hyperparathyroidism calcium-sensing receptor (casr) parathyroid
Online-Zugang:	https://cab.unime.it/journals/index.php/APMB/article/view/3205
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