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Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism.
Hietamäki, Johanna; Gregory, Louise C; Ayoub, Sandy; Iivonen, Anna-Pauliina; Vaaralahti, Kirsi; Liu, Xiaonan; Brandstack, Nina; Buckton, Andrew J; Laine, Tiina; Känsäkoski, Johanna; Hero, Matti; Miettinen, Päivi J; Varjosalo, Markku; Wakeling, Emma; Dattani, Mehul T; Raivio, Taneli.
Afiliación
  • Hietamäki J; Pediatric Research Center, Helsinki University Hospital, New Children's Hospital, Pediatric Research Center, Helsinki, Finland.
  • Gregory LC; Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Ayoub S; North West Thames Regional Genetic Service, London North West University Healthcare NHS Trust, Harrow, UK.
  • Iivonen AP; Department of Physiology, Medicum Unit, and Translational Stem Cell Biology and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
  • Vaaralahti K; Department of Physiology, Medicum Unit, and Translational Stem Cell Biology and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
  • Liu X; Institute of Biotechnology & HiLIFE, University of Helsinki, Helsinki, Finland.
  • Brandstack N; Department of Radiology, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.
  • Buckton AJ; London North Genomic Laboratory Hub, Great Ormond Street Hospital NHS Trust, London, UK.
  • Laine T; Pediatric Research Center, Helsinki University Hospital, New Children's Hospital, Pediatric Research Center, Helsinki, Finland.
  • Känsäkoski J; Department of Physiology, Medicum Unit, and Translational Stem Cell Biology and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
  • Hero M; Pediatric Research Center, Helsinki University Hospital, New Children's Hospital, Pediatric Research Center, Helsinki, Finland.
  • Miettinen PJ; Pediatric Research Center, Helsinki University Hospital, New Children's Hospital, Pediatric Research Center, Helsinki, Finland.
  • Varjosalo M; Institute of Biotechnology & HiLIFE, University of Helsinki, Helsinki, Finland.
  • Wakeling E; North West Thames Regional Genetic Service, London North West University Healthcare NHS Trust, Harrow, UK.
  • Dattani MT; Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Raivio T; Molecular Basis of Rare Diseases Section, Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, London, UK.
J Clin Endocrinol Metab ; 105(6)2020 06 01.
Article en En | MEDLINE | ID: mdl-32060556
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Biomarcadores / Proteínas Adaptadoras Transductoras de Señales / Hipopituitarismo / Mutación Tipo de estudio: Observational_studies / Prognostic_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: J Clin Endocrinol Metab Año: 2020 Tipo del documento: Article País de afiliación: Finlandia Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Biomarcadores / Proteínas Adaptadoras Transductoras de Señales / Hipopituitarismo / Mutación Tipo de estudio: Observational_studies / Prognostic_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: J Clin Endocrinol Metab Año: 2020 Tipo del documento: Article País de afiliación: Finlandia Pais de publicación: Estados Unidos