title: Clinical Utility Gene Card for: Congenital Generalized Lipodystrophy.
authors.affiliation: AP-HP, Hôpital Saint-Antoine, Laboratoire Commun de Biologie et Génétique Moléculaires, Paris, France.|Sorbonne Universités, UPMC Univ Paris 06, INSERM, UMR_S938, Centre de Recherche Saint-Antoine, Paris, France.|ICAN, Institute of Cardiometabolism and Nutrition, Paris, France.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Jéru
authors.affiliation: Sorbonne Universités, UPMC Univ Paris 06, INSERM, UMR_S938, Centre de Recherche Saint-Antoine, Paris, France.|ICAN, Institute of Cardiometabolism and Nutrition, Paris, France.|AP-HP, Hôpital Saint-Antoine, Service d'Endocrinologie, Diabétologie et Endocrinologie de la Reproduction, Paris, France.
authors.forename: Camille
authors.initials: C
authors.lastname: Vatier
authors.affiliation: CIMUS Biomedical Research Institute, University of Santiago de Compostela-IDIS, Santiago de Compostela, Spain.
authors.forename: David
authors.initials: D
authors.lastname: Araujo-Vilar
authors.affiliation: AP-HP, Hôpital Saint-Antoine, Laboratoire Commun de Biologie et Génétique Moléculaires, Paris, France.|Sorbonne Universités, UPMC Univ Paris 06, INSERM, UMR_S938, Centre de Recherche Saint-Antoine, Paris, France.|ICAN, Institute of Cardiometabolism and Nutrition, Paris, France.|AP-HP, Hôpital Saint-Antoine, Service d'Endocrinologie, Diabétologie et Endocrinologie de la Reproduction, Paris, France.
authors.forename: Corinne
authors.initials: C
authors.lastname: Vigouroux
authors.affiliation: AP-HP, Hôpital Saint-Antoine, Laboratoire Commun de Biologie et Génétique Moléculaires, Paris, France.|Sorbonne Universités, UPMC Univ Paris 06, INSERM, UMR_S938, Centre de Recherche Saint-Antoine, Paris, France.|ICAN, Institute of Cardiometabolism and Nutrition, Paris, France.
authors.forename: Olivier
authors.initials: O
authors.lastname: Lascols
mesh_terms: D000217:Acyltransferases / Q000235:genetics; D051242:Caveolin 1 / Q000235:genetics; D044388:GTP-Binding Protein gamma Subunits / Q000235:genetics; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D052497:Lipodystrophy, Congenital Generalized / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D009154:Mutation; D057089:Pathology, Molecular; D016601:RNA-Binding Proteins / Q000235:genetics; D018570:Risk Assessment; D012680:Sensitivity and Specificity
chemical_list: C432679:BSCL2 protein, human; C495540:CAV1 protein, human; C497835:CAVIN1 protein, human; D051242:Caveolin 1; D044388:GTP-Binding Protein gamma Subunits; D016601:RNA-Binding Proteins; D000217:Acyltransferases; C018764:2-acylglycerophosphate acyltransferase