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A Novel GNAS Duplication Associated With Loss-of-Methylation Restricted to Exon A/B Causes Pseudohypoparathyroidism Type Ib (PHP1B).
Reyes, Monica; Kagami, Masayo; Kawashima, Sayaka; Pallotta, Johanna; Schnabel, Dirk; Fukami, Maki; Jüppner, Harald.
Afiliación
  • Reyes M; Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
  • Kagami M; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Kawashima S; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Pallotta J; Pediatric Nephrology Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
  • Schnabel D; Center for Chronically Sick Children, Pediatric Endocrinology, Charité University Medicine, Berlin, Germany.
  • Fukami M; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Jüppner H; Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
J Bone Miner Res ; 36(3): 546-552, 2021 03.
Article en En | MEDLINE | ID: mdl-33180333
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Seudohipoparatiroidismo / Cromograninas Tipo de estudio: Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: J Bone Miner Res Asunto de la revista: METABOLISMO / ORTOPEDIA Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Seudohipoparatiroidismo / Cromograninas Tipo de estudio: Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: J Bone Miner Res Asunto de la revista: METABOLISMO / ORTOPEDIA Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos