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Case report of GNAS epigenetic defect revealed by a congenital hypothyroidism.
Romanet, Pauline; Osei, Lindsay; Netchine, Irène; Pertuit, Morgane; Enjalbert, Alain; Reynaud, Rachel; Barlier, Anne.
Affiliation
  • Romanet P; Assistance Publique Hôpitaux de Marseille, Hôpital la Conception, Laboratory of Molecular Biology, Marseille, France; Aix Marseille Université, CNRS, CRN2M-UMR 7286, Marseille, France;
  • Osei L; Assistance Publique Hôpitaux de Marseille, Hôpital La Timone Enfant, Departments of Pediatrics, Marseille, France;
  • Netchine I; Institut National de la Santé et de la Recherche Médicale, Centre de Recherche Saint-Antoine, UMR_S 938, Paris, France; and Sorbonne Universités, Paris, France.
  • Pertuit M; Assistance Publique Hôpitaux de Marseille, Hôpital la Conception, Laboratory of Molecular Biology, Marseille, France;
  • Enjalbert A; Assistance Publique Hôpitaux de Marseille, Hôpital la Conception, Laboratory of Molecular Biology, Marseille, France; Aix Marseille Université, CNRS, CRN2M-UMR 7286, Marseille, France;
  • Reynaud R; Aix Marseille Université, CNRS, CRN2M-UMR 7286, Marseille, France; Assistance Publique Hôpitaux de Marseille, Hôpital La Timone Enfant, Departments of Pediatrics, Marseille, France;
  • Barlier A; Assistance Publique Hôpitaux de Marseille, Hôpital la Conception, Laboratory of Molecular Biology, Marseille, France; Aix Marseille Université, CNRS, CRN2M-UMR 7286, Marseille, France; anne.barlier@univ-amu.fr.
Pediatrics ; 135(4): e1079-83, 2015 Apr.
Article in En | MEDLINE | ID: mdl-25802348
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Pseudohypoparathyroidism / GTP-Binding Protein alpha Subunits, Gs / Congenital Hypothyroidism / Epigenesis, Genetic Type of study: Diagnostic_studies Limits: Female / Humans / Newborn Language: En Journal: Pediatrics Year: 2015 Document type: Article Country of publication: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Pseudohypoparathyroidism / GTP-Binding Protein alpha Subunits, Gs / Congenital Hypothyroidism / Epigenesis, Genetic Type of study: Diagnostic_studies Limits: Female / Humans / Newborn Language: En Journal: Pediatrics Year: 2015 Document type: Article Country of publication: United States