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Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation.
Gregory, Louise C; Ferreira, Carolina B; Young-Baird, Sara K; Williams, Hywel J; Harakalova, Magdalena; van Haaften, Gijs; Rahman, Sofia A; Gaston-Massuet, Carles; Kelberman, Daniel; Qasim, Waseem; Camper, Sally A; Dever, Thomas E; Shah, Pratik; Robinson, Iain C A F; Dattani, Mehul T.
Afiliación
  • Gregory LC; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, United Kingdom.
  • Ferreira CB; Infection, Immunology Inflammation & Physiological Medicine, UCL Great Ormond Street Institute of Child Health, WC1N 1EH London, United Kingdom.
  • Young-Baird SK; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, United States; National Institute of General Medical Sciences, National Institutes of Health, Bethesda, MA 20892, United States.
  • Williams HJ; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, United Kingdom.
  • Harakalova M; Department of Genetics, University Medical Center Utrecht, 3584, the Netherlands.
  • van Haaften G; Department of Genetics, University Medical Center Utrecht, 3584, the Netherlands.
  • Rahman SA; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, United Kingdom.
  • Gaston-Massuet C; Centre for Endocrinology, William Harvey Research Institute, Barts & The London Medical School, Queen Mary University of London, EC1M 6BQ, United Kingdom.
  • Kelberman D; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, United Kingdom.
  • GOSgene; NIHR Biomedical Research Centre at Great Ormond Street Hospital, Children NHS Foundation Trust and UCL, London WC1N 1EH, United Kingdom.
  • Qasim W; Infection, Immunology Inflammation & Physiological Medicine, UCL Great Ormond Street Institute of Child Health, WC1N 1EH London, United Kingdom.
  • Camper SA; Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, United States.
  • Dever TE; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, United States.
  • Shah P; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, United Kingdom.
  • Robinson ICAF; The Francis Crick Institute, London NW1 1ST, United Kingdom.
  • Dattani MT; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, United Kingdom. Electronic address: m.dattani@ucl.ac.uk.
EBioMedicine ; 42: 470-480, 2019 Apr.
Article en En | MEDLINE | ID: mdl-30878599
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fenotipo / Factor 2 Eucariótico de Iniciación / Genes Ligados a X / Glucosa / Hipopituitarismo Tipo de estudio: Diagnostic_studies / Risk_factors_studies Límite: Child, preschool / Humans / Infant Idioma: En Revista: EBioMedicine Año: 2019 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
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PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fenotipo / Factor 2 Eucariótico de Iniciación / Genes Ligados a X / Glucosa / Hipopituitarismo Tipo de estudio: Diagnostic_studies / Risk_factors_studies Límite: Child, preschool / Humans / Infant Idioma: En Revista: EBioMedicine Año: 2019 Tipo del documento: Article País de afiliación: Reino Unido