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Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy.
Kopajtich, Robert; Murayama, Kei; Janecke, Andreas R; Haack, Tobias B; Breuer, Maximilian; Knisely, A S; Harting, Inga; Ohashi, Toya; Okazaki, Yasushi; Watanabe, Daisaku; Tokuzawa, Yoshimi; Kotzaeridou, Urania; Kölker, Stefan; Sauer, Sven; Carl, Matthias; Straub, Simon; Entenmann, Andreas; Gizewski, Elke; Feichtinger, René G; Mayr, Johannes A; Lackner, Karoline; Strom, Tim M; Meitinger, Thomas; Müller, Thomas; Ohtake, Akira; Hoffmann, Georg F; Prokisch, Holger; Staufner, Christian.
Afiliación
  • Kopajtich R; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany.
  • Murayama K; Department of Metabolism, Chiba Children's Hospital, Chiba 266-0007, Japan; Chiba Cancer Center Research Institute, Chiba 260-8717, Japan.
  • Janecke AR; Department of Pediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria; Division of Human Genetics, Medical University of Innsbruck, 6020 Innsbruck, Austria.
  • Haack TB; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany.
  • Breuer M; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.
  • Knisely AS; Institute of Liver Studies, King's College Hospital, London SE5 9RS, UK; Institute of Pathology, Medical University of Graz, 8036 Graz, Austria.
  • Harting I; Department of Neuroradiology, University Hospital Heidelberg, 69120 Heidelberg, Germany.
  • Ohashi T; Department of Pediatrics, The Jikei University School of Medicine, Tokyo 105-8461, Japan.
  • Okazaki Y; Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University, Hidaka, Saitama 350-1241, Japan; Division of Functional Genomics & Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University, Hidaka, Saitama 350-1241, Japan.
  • Watanabe D; Department of Large Animal Clinics, School of Veterinary Medicine, Kitasato University, Towada, Aomori 034-8628, Japan.
  • Tokuzawa Y; Division of Functional Genomics & Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University, Hidaka, Saitama 350-1241, Japan.
  • Kotzaeridou U; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.
  • Kölker S; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.
  • Sauer S; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.
  • Carl M; Department of Cell and Molecular Biology, Medical Faculty Mannheim, Heidelberg University, 68167 Mannheim, Germany.
  • Straub S; Department of Pediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria.
  • Entenmann A; Department of Pediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria.
  • Gizewski E; Department of Neuroradiology, Medical University of Innsbruck, 6020 Innsbruck, Austria.
  • Feichtinger RG; Department of Paediatrics, Paracelsus Medical University, SALK Salzburg, 5020 Salzburg, Austria.
  • Mayr JA; Department of Paediatrics, Paracelsus Medical University, SALK Salzburg, 5020 Salzburg, Austria.
  • Lackner K; Institute of Pathology, Medical University of Graz, 8036 Graz, Austria.
  • Strom TM; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany.
  • Meitinger T; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany.
  • Müller T; Department of Pediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria.
  • Ohtake A; Department of Pediatrics, Faculty of Medicine, Saitama Medical University, Moroyama, Saitama 350-0495, Japan.
  • Hoffmann GF; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.
  • Prokisch H; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany.
  • Staufner C; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany. Electronic address: christian.staufner@med.uni-heidelberg.de.
Am J Hum Genet ; 99(2): 414-22, 2016 Aug 04.
Article en En | MEDLINE | ID: mdl-27426735
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Alelos / Retardo del Crecimiento Fetal / Isoleucina-ARNt Ligasa / Hepatopatías / Discapacidad Intelectual / Hipotonía Muscular / Mutación Tipo de estudio: Prognostic_studies Límite: Adolescent / Animals / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Hum Genet Año: 2016 Tipo del documento: Article País de afiliación: Alemania
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Alelos / Retardo del Crecimiento Fetal / Isoleucina-ARNt Ligasa / Hepatopatías / Discapacidad Intelectual / Hipotonía Muscular / Mutación Tipo de estudio: Prognostic_studies Límite: Adolescent / Animals / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Hum Genet Año: 2016 Tipo del documento: Article País de afiliación: Alemania