title: Pseudohypoparathyroidism type 1a due to a novel mutation in the GNAS gene.
authors.affiliation: CICS-UBI, Health Sciences Research Centre, University of Beira Interior, Covilhã, Portugal. mclemos@fcsaude.ubi.pt.|Academic Endocrine Unit, Radcliffe Department of Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM), Churchill Hospital, University of Oxford, Oxford, UK. mclemos@fcsaude.ubi.pt.
authors.forename: Manuel C
authors.initials: MC
authors.lastname: Lemos
authors.affiliation: Academic Endocrine Unit, Radcliffe Department of Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM), Churchill Hospital, University of Oxford, Oxford, UK.
authors.forename: Paul T
authors.initials: PT
authors.lastname: Christie
authors.affiliation: Endocrinology, Diabetes and Metabolism Service, University Hospital of Coimbra, Coimbra, Portugal.
authors.forename: Dírcea
authors.initials: D
authors.lastname: Rodrigues
authors.affiliation: Academic Endocrine Unit, Radcliffe Department of Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM), Churchill Hospital, University of Oxford, Oxford, UK.
authors.forename: Rajesh V
authors.initials: RV
authors.lastname: Thakker
mesh_terms: D001483:Base Sequence; D002648:Child; D002864:Chromogranins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D019205:GTP-Binding Protein alpha Subunits, Gs / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D011547:Pseudohypoparathyroidism / Q000235:genetics* / Q000473:pathology
chemical_list: D002864:Chromogranins; C406732:GNAS protein, human; D019205:GTP-Binding Protein alpha Subunits, Gs