Article
Unusual case of neonatal hypercalcemia.
International journal of pediatric otorhinolaryngology - 1 May 2015
Brickman Todd M, Stark Matthew W, Jeyakumar Anita
Abstract excerpt
We present a rare case of neonatal hyperparathyroidism secondary to a homozygous calcium sensing receptor (CASR) mutation, diagnosed by the genetics team. The CASR mutation is a homozygous inactivating mutation at the calcium sensing receptor. Inactivation of the receptor leads to hypercalcemia a...
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