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SAT-351 A Novel Mutation in the Calcium-Sensing Receptor Gene Presenting in a Kindred as Autosomal Dominant Familial Hypocalciuric Hypercalcemia

Rationale: Familial hypocalciuric hypercalcemia (FHH) is a benign cause of hypercalcemia. The majority of cases result from an inactivating mutation in the calcium-sensing receptor (CaSR). While affected patients are usually asymptomatic and require no treatment, this condition may go unrecognized a...

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Bibliografiska uppgifter
I publikationen:J Endocr Soc
Huvudupphovsmän: Bushman, Jordan, Banka, Ajaz
Materialtyp: Artigo
Språk:Inglês
Publicerad: Oxford University Press 2020
Ämnen:
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC7209485/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa046.425
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