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A novel deletion involving GNAS exon 1 causes PHP1A and further refines the region required for normal methylation at exon A/B.
Reyes, Monica; Karaca, Anara; Bastepe, Murat; Gulcelik, Nese Ersoz; Jüppner, Harald.
Affiliation
  • Reyes M; Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
  • Karaca A; Ankara Training and Research Hospital, Endocrinology and Metabolism, Ankara, Turkey.
  • Bastepe M; Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
  • Gulcelik NE; Ankara Training and Research Hospital, Endocrinology and Metabolism, Ankara, Turkey.
  • Jüppner H; Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA; Pediatric Nephrology Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA. Electronic address: HJUEPPNER@mgh.harvard.edu.
Bone ; 103: 281-286, 2017 Oct.
Article in En | MEDLINE | ID: mdl-28711660

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Pseudohypoparathyroidism / Chromogranins / GTP-Binding Protein alpha Subunits, Gs Type of study: Etiology_studies / Prognostic_studies Limits: Adult / Female / Humans Language: En Journal: Bone Year: 2017 Document type: Article

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Pseudohypoparathyroidism / Chromogranins / GTP-Binding Protein alpha Subunits, Gs Type of study: Etiology_studies / Prognostic_studies Limits: Adult / Female / Humans Language: En Journal: Bone Year: 2017 Document type: Article