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Clinical Presentation and Management Approach in a Case of Familial Hypocalciuric Hypercalcemia Type 3 Due to APS21 Gene Mutation

Familial hypocalciuric hypercalcemia (FHH) is a genetic disorder caused by dysfunctional calcium homeostasis. Thus far, three types of FHH are known to be caused by mutations inCASR (FHH1), GNA11 (FHH2), and AP2S1 (FHH3). The patient in this case report is a 36-year old male that initially presented...

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Bibliografski detalji
Izdano u:J Endocr Soc
Glavni autori: Elsheikh, Sahar A, Blunk, Henry M, Wilhelm, Scott
Format: Artigo
Jezik:Inglês
Izdano: Oxford University Press 2021
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8089556/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvab048.381
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