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Targeted Long-Read Sequencing Identifies a Retrotransposon Insertion as a Cause of Altered GNAS Exon A/B Methylation in a Family With Autosomal Dominant Pseudohypoparathyroidism Type 1b (PHP1B).
Miller, Danny E; Hanna, Patrick; Galey, Miranda; Reyes, Monica; Linglart, Agnès; Eichler, Evan E; Jüppner, Harald.
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  • Miller DE; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, USA.
  • Hanna P; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
  • Galey M; Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
  • Reyes M; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
  • Linglart A; Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
  • Eichler EE; AP-HP, Endocrinology and Diabetology for Children, Bicêtre Paris Saclay Hospital, Le Kremlin Bicêtre, France.
  • Jüppner H; Université Paris Saclay, Inserm, Physiologie et Physiopathologie Endocrinienne, Bicêtre Paris Saclay Hospital, Le Kremlin Bicêtre, France.
J Bone Miner Res ; 37(9): 1711-1719, 2022 09.
Article en En | MEDLINE | ID: mdl-35811283
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Seudohipoparatiroidismo / Cromograninas Tipo de estudio: Prognostic_studies Idioma: En Revista: J Bone Miner Res Asunto de la revista: METABOLISMO / ORTOPEDIA Año: 2022 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Seudohipoparatiroidismo / Cromograninas Tipo de estudio: Prognostic_studies Idioma: En Revista: J Bone Miner Res Asunto de la revista: METABOLISMO / ORTOPEDIA Año: 2022 Tipo del documento: Article