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Original research
Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive

Authors

  • Guido Vogt Institute of Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany PubMed articlesGoogle scholar articles
  • Sarah Verheyen Institute of Human Genetics, Diagnostic and Research Center for Molecular BioMedicine, Medical University of Graz, Graz, Austria PubMed articlesGoogle scholar articles
  • Sarina Schwartzmann Institute of Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany PubMed articlesGoogle scholar articles
  • Nadja Ehmke Institute of Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany PubMed articlesGoogle scholar articles
  • Cornelia Potratz Department of Pediatric Neurology, Charité Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany PubMed articlesGoogle scholar articles
  • Anette Schwerin-Nagel Department of Pediatrics and Adolescent Medicine, Division of General Pediatrics, Medical University of Graz, Graz, Austria PubMed articlesGoogle scholar articles
  • Barbara Plecko Department of Pediatrics and Adolescent Medicine, Division of General Pediatrics, Medical University of Graz, Graz, Austria PubMed articlesGoogle scholar articles
  • Manuel Holtgrewe Core Unit Bioinformatics (CUBI), Berlin Institute of Health, Berlin, Germany PubMed articlesGoogle scholar articles
  • Dominik Seelow Institute of Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, GermanyBioinformatics and Translational Genetics, Berlin Institute of Health, Berlin, Germany PubMed articlesGoogle scholar articles
  • Jasmin Blatterer Institute of Human Genetics, Diagnostic and Research Center for Molecular BioMedicine, Medical University of Graz, Graz, Austria PubMed articlesGoogle scholar articles
  • Michael R Speicher Institute of Human Genetics, Diagnostic and Research Center for Molecular BioMedicine, Medical University of Graz, Graz, Austria PubMed articlesGoogle scholar articles
  • Uwe Kornak Institute of Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, GermanyInstitute of Human Genetics, University Medical Center Göttingen, Gottingen, Germany PubMed articlesGoogle scholar articles
  • Denise Horn Institute of Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany PubMed articlesGoogle scholar articles
  • Stefan Mundlos Institute of Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, GermanyRG Development and Disease, Max-Planck-Institute for Molecular Genetics, Berlin, Germany PubMed articlesGoogle scholar articles
  • Björn Fischer-Zirnsak Institute of Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, GermanyRG Development and Disease, Max-Planck-Institute for Molecular Genetics, Berlin, Germany PubMed articlesGoogle scholar articles
  • Felix Boschann Institute of Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Felix Boschann, Institute of Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany; felix.boschann{at}charite.de
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Citation

Vogt G, Verheyen S, Schwartzmann S, et al
Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive

Publication history

  • Received March 24, 2021
  • Accepted May 20, 2021
  • First published June 18, 2021.
  • Supplementary Data

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