title: Neonatal hypercalcemia due to polymorphisms of the calcium sensing receptor.
abstract: Familial hypocalciuric hypercalcemia (FHH) is known to be caused by heterozygous inactivating mutations of the calcium sensing receptor (CaSR) gene. We report an infant with transient neonatal hypercalcemia who was found to be homozygous for a polymorphism at A986S of the CaSR.
authors.affiliation: Department of Endocrinology, Royal North Shore Hospital, St Leonards, NSW, Australia. mmjack@med.usyd.edu.au
authors.forename: Michelle M
authors.initials: MM
authors.lastname: Jack
authors.forename: Monique L
authors.initials: ML
authors.lastname: Stone
authors.forename: Roderick
authors.initials: R
authors.lastname: Clifton-Bligh
mesh_terms: D002118:Calcium / Q000097:blood; D004252:DNA Mutational Analysis; D006801:Humans; D006934:Hypercalcemia / Q000097:blood / Q000235:genetics*; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000097:blood / Q000235:genetics*; D008297:Male; D011110:Polymorphism, Genetic; D044169:Receptors, Calcium-Sensing / Q000235:genetics*; D012016:Reference Values
chemical_list: C095550:CASR protein, human; D044169:Receptors, Calcium-Sensing; D002118:Calcium