Your browser doesn't support javascript.
loading
Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation.
Klammt, Jürgen; Neumann, David; Gevers, Evelien F; Andrew, Shayne F; Schwartz, I David; Rockstroh, Denise; Colombo, Roberto; Sanchez, Marco A; Vokurkova, Doris; Kowalczyk, Julia; Metherell, Louise A; Rosenfeld, Ron G; Pfäffle, Roland; Dattani, Mehul T; Dauber, Andrew; Hwa, Vivian.
Afiliação
  • Klammt J; Department of Women's and Child Health, University Hospital Leipzig, Liebigstrasse 20a, 04103, Leipzig, Germany.
  • Neumann D; Department of Pediatrics, Faculty of Medicine, University Hospital Hradec Kralove, Charles University, Prague, 500 05, Hradec Kralove, Czech Republic.
  • Gevers EF; Department of Pediatric Endocrinology, Royal London Children's Hospital, Barts Health NHS Trust, Whitechapel Road, London, E1 1 BB, UK.
  • Andrew SF; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, First Floor North, John Vane Building, Charterhouse Square, London, EC1M 6BQ, UK.
  • Schwartz ID; Division of Endocrinology, 240 Albert Sabin Way, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, 45229, USA.
  • Rockstroh D; Mercy Kids Pediatric Endocrinology & Diabetes, Mercy Children's Hospital and Mercy Clinic, 1965 S. Fremont, Suite 260, Springfield, MO, 65804, USA.
  • Colombo R; Department of Women's and Child Health, University Hospital Leipzig, Liebigstrasse 20a, 04103, Leipzig, Germany.
  • Sanchez MA; Institute of Clinical Biochemistry, Faculty of Medicine, Catholic University and IRCCS Policlinico Agostino Gemelli, Largo Francesco Vito 1, I-00168, Rome, Italy.
  • Vokurkova D; Center for the Study of Rare Hereditary Diseases, Niguarda Ca' Granda Metropolitan Hospital, Milan, Italy.
  • Kowalczyk J; Department of Molecular Microbiology and Immunology, Oregon Health & Science University, 3181 SW Sam Jackson Park Rd, Portland, OR, 97239, USA.
  • Metherell LA; Department of Clinical Immunology and Allergology, Faculty of Medicine, University Hospital Hradec Kralove, Charles University, Prague, 500 05, Hradec Kralove, Czech Republic.
  • Rosenfeld RG; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, First Floor North, John Vane Building, Charterhouse Square, London, EC1M 6BQ, UK.
  • Pfäffle R; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, First Floor North, John Vane Building, Charterhouse Square, London, EC1M 6BQ, UK.
  • Dattani MT; Department of Pediatrics, Oregon Health & Science University, Portland, OR, USA.
  • Dauber A; Department of Women's and Child Health, University Hospital Leipzig, Liebigstrasse 20a, 04103, Leipzig, Germany.
  • Hwa V; Section of Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme, University College London, Great Ormond Street Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK.
Nat Commun ; 9(1): 2105, 2018 05 29.
Article em En | MEDLINE | ID: mdl-29844444
Assuntos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mutação em Linhagem Germinativa / Hormônio do Crescimento Humano / Predisposição Genética para Doença / Síndrome de Laron / Fator de Transcrição STAT5 Limite: Adolescent / Child / Female / Humans / Infant / Male Idioma: En Revista: Nat Commun Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mutação em Linhagem Germinativa / Hormônio do Crescimento Humano / Predisposição Genética para Doença / Síndrome de Laron / Fator de Transcrição STAT5 Limite: Adolescent / Child / Female / Humans / Infant / Male Idioma: En Revista: Nat Commun Ano de publicação: 2018 Tipo de documento: Article