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- Title
Neonatal Hypercalcemia Due to Polymorphisms of the Calcium Sensing Receptor.
- Authors
Jack, Michelle M.; Stone, Monique L.; Clifton-Bligh, Roderick
- Abstract
The article examines the case of an infant discovered to have transient neonatal hypercalcemia and was found to have a homozygous mutation of the calcium sensing receptor (CaSR). Polymorphism of the CASR has been associated with high levels of serum calcium but hypercalcemia was found transient in the baby with eventual normalization of calcium levels revealing no severe functional defect. Transient neonatal hypercalcemia also occurs in a few babies with heterozygous mutations and should further be studied.
- Subjects
HYPERCALCEMIA; INFANT diseases; CALCIUM metabolism disorders; GENETIC polymorphisms; GENETIC mutation
- Publication
Journal of Pediatric Endocrinology & Metabolism, 2009, Vol 22, Issue 6, p561
- ISSN
0334-018X
- Publication type
Article
- DOI
10.1515/JPEM.2009.22.6.561