title: Severe hypocalcemia due to a de novo mutation in the fifth transmembrane domain of the calcium-sensing receptor.
authors.forename: Stefano
authors.initials: S
authors.lastname: Mora
authors.forename: Ilaria
authors.initials: I
authors.lastname: Zamproni
authors.forename: Maria Carla
authors.initials: MC
authors.lastname: Proverbio
authors.forename: Valentina
authors.initials: V
authors.lastname: Bozzetti
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Chiumello
authors.forename: Giovanna
authors.initials: G
authors.lastname: Weber
mesh_terms: D004252:DNA Mutational Analysis; D006579:Heterozygote; D006801:Humans; D006996:Hypocalcemia / Q000097:blood / Q000235:genetics* / Q000473:pathology; D007223:Infant; D008297:Male; D020125:Mutation, Missense; D010281:Parathyroid Hormone / Q000097:blood; D010641:Phenotype; D044169:Receptors, Calcium-Sensing / Q000235:genetics*
chemical_list: D010281:Parathyroid Hormone; D044169:Receptors, Calcium-Sensing