title: Novel mutation of the calcium sensing receptor gene in familial hypocalciuric hypercalcaemia and neonatal severe hyperparathyroidism.
authors.forename: Simone Caixeta
authors.initials: SC
authors.lastname: de Andrade
authors.forename: Suely Keiko
authors.initials: SK
authors.lastname: Kohara
authors.forename: Lilia
authors.initials: L
authors.lastname: D'Souza-Li
mesh_terms: D002118:Calcium / Q000652:urine; D003241:Consanguinity; D005091:Exons; D006801:Humans; D006934:Hypercalcemia / Q000235:genetics* / Q000652:urine; D006961:Hyperparathyroidism / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D017354:Point Mutation; D044169:Receptors, Calcium-Sensing / Q000235:genetics*
chemical_list: D044169:Receptors, Calcium-Sensing; D002118:Calcium