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Analysis of Multiple Families With Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS Deletion.
Takatani, Rieko; Molinaro, Angelo; Grigelioniene, Giedre; Tafaj, Olta; Watanabe, Tomoyuki; Reyes, Monica; Sharma, Amita; Singhal, Vibha; Raymond, F Lucy; Linglart, Agnès; Jüppner, Harald.
Afiliação
  • Takatani R; Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
  • Molinaro A; Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
  • Grigelioniene G; Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
  • Tafaj O; Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
  • Watanabe T; Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
  • Reyes M; Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
  • Sharma A; Pediatric Nephrology Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
  • Singhal V; Pediatric Endocrinology Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
  • Raymond FL; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.
  • Linglart A; Paediatric Endocrinology and Diabetology, French National Reference Centre for Rare Disorders of Mineral Metabolism, AP-HP Hôpital Bicêtre Paris Sud, le Kremlin-Bicêtre, France.
  • Jüppner H; Faculté de Médecine, Université Paris Sud, le Kremlin-Bicêtre, France.
J Bone Miner Res ; 31(4): 796-805, 2016 Apr.
Article em En | MEDLINE | ID: mdl-26479409
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Pseudo-Hipoparatireoidismo / Sequência de Bases / Família / Cromograninas / Deleção de Sequência / Subunidades alfa Gs de Proteínas de Ligação ao GTP / Alelos Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Pseudo-Hipoparatireoidismo / Sequência de Bases / Família / Cromograninas / Deleção de Sequência / Subunidades alfa Gs de Proteínas de Ligação ao GTP / Alelos Idioma: En Ano de publicação: 2016 Tipo de documento: Article