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Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism
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Schänzer, Anne (Institute of Neuropathology, Justus-Liebig-University, Giessen, Germany) ;
Achleitner, Melanie T. (University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria) ;
Trümbach, Dietrich (Institute of Metabolism and Cell Death, Helmholtz Center, Munich, Germany) ;
Hubert, Laurence (Inserm UMR1163, Imagine Institute, Tanslational Genetics, Université de Paris, Paris, France) ;
Munnich, Arnold (Inserm UMR1163, Imagine Institute, Tanslational Genetics, Université de Paris, Paris, France) ;
Ahlemeyer, Barbara (Institute for Anatomy and Cell Biology, Division of Medical Cell Biology, Justus Liebig University, Giessen, Germany) ;
AlAbdulrahim, Maha M. (King Abdullah Bin Abdulaziz University Hospital, Riyadh, Saudi Arabia) ;
Greif, Philipp A. (Experimental Leukemia and Lymphoma Research Department of Medicine III, University Hospital, LMU Munich, Munich, Germany) ;
Vosberg, Sebastian (German Cancer Research Centre (DKFZ), Heidelberg, Germany) ;
Hummer, Blake (Molecular and Cellular Biophysics Program, Department of Biological Sciences, University of Denver, Denver, CO, USA) ;
Feichtinger, René G. (University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria) ;
Mayr, Johannes A. (University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria) ;
Wortmann, Saskia B. (Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Amalia Children's Hospital, Radboudumc, Nijmegen, The Netherlands) ;
Aichner, Heidi (Department of Pediatrics, Academic Teaching Hospital, Landeskrankenhaus Feldkirch, Feldkirch, Austria) ;
Rudnik-Schöneborn, Sabine (Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria) ;
Ruiz, Anna (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Gabau, Elisabeth (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Pérez Sánchez, Jacobo (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Ellard, Sian (College of Medicine and Health, University of Exeter, Exeter, UK) ;
Homfray, Tessa (Saint George's University Hospital and Royal Brompton Hospital, London, UK) ;
Stals, Karen L. (Genomic Laboratory, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK) ;
Wurst, Wolfgang (Ludwig-Maximilians-Universität München) ;
Neubauer, Bernd A. (Department of Child Neurology, Justus-Liebig-University, Giessen, Germany) ;
Acker, Till (Institute of Neuropathology, Justus-Liebig-University, Giessen, Germany) ;
Bohlander, Stefan K. (Leukaemia and Blood Cancer Research Unit, Department of Molecular Medicine and Pathology, The University of Auckland, Auckland, New Zealand) ;
Asensio, Cédric (Molecular and Cellular Biophysics Program, Department of Biological Sciences, University of Denver, Denver, CO, USA) ;
Besmond, Claude (Inserm UMR1163, Imagine Institute, Tanslational Genetics, Université de Paris, Paris, France) ;
Alkuraya, Fowzan S. (Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia) ;
AlSayed, Moenaldeen D. (King Faisal Specialist Hospital and Research Centre (Aràbia Saudita)) ;
Hahn, Andreas (Department of Child Neurology, Justus-Liebig-University, Giessen, Germany) ;
Weber, Axel (Institute of Human Genetics, Justus-Liebig- University, Giessen, Germany) ;
Universitat Autònoma de Barcelona
Precursors of peptide hormones undergo posttranslational modifications within the trans-Golgi network (TGN). Dysfunction of proteins involved at different steps of this process cause several complex syndromes affecting the central nervous system (CNS). [...]
2021 -  10.1002/ana.26127
Annals of neurology, Vol. 90 (june 2021) , p. 143-158
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