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SAT-370 Novel CASR Gene Mutation as a Cause of Familial Isolated Primary Hyperparathyroidism

BACKGROUND: Primary hyperparathyroidism (pHT) is one of the most common causes of hypercalcemia. About 10% of these patients have a familial cause of which MEN and the hyperparathyroid-jaw tumor syndrome (HJTs) are most common. Familial hypocalciuric hypercalcemia (FHH) due to loss of function mutat...

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Pubblicato in:J Endocr Soc
Autori principali: Juneau, Andrea K, Opoku-Boateng, Adwoa, Uwaifo, Gabriel Ikponmosa
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2020
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7209321/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa046.459
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