title: Glucocorticoid resistance syndrome caused by two novel mutations in the NR3C1 gene.
authors.affiliation: Endocrinology and Diabetes Research Group, Hospital Universitario Cruces, BioCruces, CIBERER, CIBERDEM, UPV-EHU, Barakaldo, Basque Country, Spain.
authors.forename: Teresa
authors.initials: T
authors.lastname: Velayos
authors.affiliation: Endocrinology and Diabetes Research Group, Hospital Universitario Cruces, BioCruces, CIBERER, CIBERDEM, UPV-EHU, Barakaldo, Basque Country, Spain.
authors.forename: Gema
authors.initials: G
authors.lastname: Grau
authors.affiliation: Endocrinology and Diabetes Research Group, Hospital Universitario Cruces, BioCruces, CIBERER, CIBERDEM, UPV-EHU, Barakaldo, Basque Country, Spain.
authors.forename: Itxaso
authors.initials: I
authors.lastname: Rica
authors.affiliation: Endocrinology and Diabetes Research Group, Hospital Universitario Cruces, BioCruces, CIBERER, CIBERDEM, UPV-EHU, Barakaldo, Basque Country, Spain.
authors.forename: Gustavo
authors.initials: G
authors.lastname: Pérez-Nanclares
authors.affiliation: Endocrinology and Diabetes Research Group, Hospital Universitario Cruces, BioCruces, CIBERER, CIBERDEM, UPV-EHU, Barakaldo, Basque Country, Spain. Electronic address: mariasonia.gaztambidesaenz@osakidetza.eus.
authors.forename: Sonia
authors.initials: S
authors.lastname: Gaztambide
mesh_terms: D000328:Adult; D001007:Anxiety / Q000235:genetics; D001665:Binding Sites / Q000235:genetics; D002648:Child; D018389:Codon, Nonsense / Q000235:genetics; D003480:Cushing Syndrome / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005221:Fatigue / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation; D006579:Heterozygote; D006628:Hirsutism / Q000235:genetics*; D006801:Humans; D017354:Point Mutation; D000072417:Protein Domains; D011965:Receptors, Glucocorticoid / Q000737:chemistry / Q000235:genetics*; D016335:Zinc Fingers / Q000235:genetics
chemical_list: D018389:Codon, Nonsense; C497713:NR3C1 protein, human; D011965:Receptors, Glucocorticoid