Familial hypocalciuric hypercalcemia
Definition:
References:
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[1]. K Aida, et al. Familial hypocalciuric hypercalcemia associated with mutation in the human Ca(2+)-sensing receptor gene. J Clin Endocrinol Metab. 1995 Sep;80(9):2594-8. [Content Brief]
[2]. M Andrew Nesbit, et al. Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia. N Engl J Med. 2013 Jun 27;368(26):2476-2486. [Content Brief]
[3]. M Andrew Nesbit, et al. Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3. Nat Genet. 2013 Jan;45(1):93-7. [Content Brief]
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