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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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Detalles Bibliográficos
Publicado en:J Endocr Soc
Main Authors: Elsheikh, Sahar A, Blunk, Henry M, Wilhelm, Scott
Formato: Artigo
Idioma:Inglês
Publicado: Oxford University Press 2021
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Acceso en liña: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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