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A New Multisystem Disorder Caused by the Gαs Mutation p.F376V.
Biebermann, Heike; Kleinau, Gunnar; Schnabel, Dirk; Bockenhauer, Detlef; Wilson, Louise C; Tully, Ian; Kiff, Sarah; Scheerer, Patrick; Reyes, Monica; Paisdzior, Sarah; Gregory, John W; Allgrove, Jeremy; Krude, Heiko; Mannstadt, Michael; Gardella, Thomas J; Dattani, Mehul; Jüppner, Harald; Grüters, Annette.
Afiliación
  • Biebermann H; Institute of Experimental Pediatric Endocrinology, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin, Germany.
  • Kleinau G; Institute of Experimental Pediatric Endocrinology, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin, Germany.
  • Schnabel D; Institut für Medizinische Physik und Biophysik, Group Protein X-ray Crystallography and Signal Transduction, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin, Germany.
  • Bockenhauer D; Department for Pediatric Endocrinology and Diabetology, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin, Germany.
  • Wilson LC; Center for Chronically Sick Children, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin, Germany.
  • Tully I; UCL Centre for Nephrology, London, United Kingdom.
  • Kiff S; Great Ormond Street Hospital for Children, Renal Unit, London, United Kingdom.
  • Scheerer P; Department of Clinical Genetics, Great Ormond Street Hospital for Children, London, United Kingdom.
  • Reyes M; Department of Clinical Genetics, University Hospital of Wales, Cardiff, United Kingdom.
  • Paisdzior S; Department of Pediatric Endocrinology, Great Ormond Street Hospital for Children, London, United Kingdom.
  • Gregory JW; Institut für Medizinische Physik und Biophysik, Group Protein X-ray Crystallography and Signal Transduction, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin, Germany.
  • Allgrove J; Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.
  • Krude H; Institute of Experimental Pediatric Endocrinology, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin, Germany.
  • Mannstadt M; Division of Population Medicine, School of Medicine, Cardiff University, Cardiff, United Kingdom.
  • Gardella TJ; Department of Pediatric Endocrinology, Great Ormond Street Hospital for Children, London, United Kingdom.
  • Dattani M; Institute of Experimental Pediatric Endocrinology, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin, Germany.
  • Jüppner H; Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.
  • Grüters A; Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.
J Clin Endocrinol Metab ; 104(4): 1079-1089, 2019 04 01.
Article en En | MEDLINE | ID: mdl-30312418
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Pubertad Precoz / Huesos / Cromograninas / Subunidades alfa de la Proteína de Unión al GTP Gs / Hiponatremia Tipo de estudio: Prognostic_studies Límite: Female / Humans / Male Idioma: En Revista: J Clin Endocrinol Metab Año: 2019 Tipo del documento: Article País de afiliación: Alemania
Texto completo
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XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Pubertad Precoz / Huesos / Cromograninas / Subunidades alfa de la Proteína de Unión al GTP Gs / Hiponatremia Tipo de estudio: Prognostic_studies Límite: Female / Humans / Male Idioma: En Revista: J Clin Endocrinol Metab Año: 2019 Tipo del documento: Article País de afiliación: Alemania