title: Autosomal dominant hypocalcaemia due to a novel CASR mutation: clinical and genetic implications.
authors.affiliation: Endocrine and Metabolic Unit, Royal Adelaide Hospital, Adelaide, SA, Australia. Lucia.Gagliardi@sa.gov.au.|Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia. Lucia.Gagliardi@sa.gov.au.|Department of Medicine, University of Adelaide, Adelaide, SA, Australia. Lucia.Gagliardi@sa.gov.au.
authors.forename: Lucia
authors.initials: L
authors.lastname: Gagliardi
authors.affiliation: Southern Adelaide Diabetes and Endocrine Services, Repatriation General Hospital, Daw Park, SA, Australia.|School of Medicine, Flinders University, Bedford Park, SA, Australia.
authors.forename: Morton G
authors.initials: MG
authors.lastname: Burt
authors.affiliation: ACRF Cancer Genomics Facility, Centre for Cancer Biology, SA Pathology, Adelaide, SA, Australia.|School of Biological Sciences, University of Adelaide, Adelaide, SA, Australia.|School of Pharmacy and Medical Sciences, Division of Health Sciences, University of South Australia, Adelaide, SA, Australia.
authors.forename: Jinghua
authors.initials: J
authors.lastname: Feng
authors.affiliation: Adult Genetics Unit, South Australian Clinical Genetics Service, SA Pathology at Women's and Children's Hospital, North Adelaide, SA, Australia.|University Department of Paediatrics, University of Adelaide, Adelaide, SA, Australia.
authors.forename: Nicola K
authors.initials: NK
authors.lastname: Poplawski
authors.affiliation: Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.|Department of Medicine, University of Adelaide, Adelaide, SA, Australia.|ACRF Cancer Genomics Facility, Centre for Cancer Biology, SA Pathology, Adelaide, SA, Australia.|School of Biological Sciences, University of Adelaide, Adelaide, SA, Australia.|School of Pharmacy and Medical Sciences, Division of Health Sciences, University of South Australia, Adelaide, SA, Australia.
authors.forename: Hamish S
authors.initials: HS
authors.lastname: Scott
mesh_terms: D005260:Female; D050723:Fractures, Bone / Q000209:etiology* / Q000628:therapy; D006801:Humans; D006996:Hypocalcemia / Q000235:genetics* / Q000628:therapy; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D044169:Receptors, Calcium-Sensing / Q000235:genetics*
chemical_list: D044169:Receptors, Calcium-Sensing