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Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive.
Vogt, Guido; Verheyen, Sarah; Schwartzmann, Sarina; Ehmke, Nadja; Potratz, Cornelia; Schwerin-Nagel, Anette; Plecko, Barbara; Holtgrewe, Manuel; Seelow, Dominik; Blatterer, Jasmin; Speicher, Michael R; Kornak, Uwe; Horn, Denise; Mundlos, Stefan; Fischer-Zirnsak, Björn; Boschann, Felix.
Affiliation
  • Vogt G; Institute of Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
  • Verheyen S; Institute of Human Genetics, Diagnostic and Research Center for Molecular BioMedicine, Medical University of Graz, Graz, Austria.
  • Schwartzmann S; Institute of Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
  • Ehmke N; Institute of Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
  • Potratz C; Department of Pediatric Neurology, Charité Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
  • Schwerin-Nagel A; Department of Pediatrics and Adolescent Medicine, Division of General Pediatrics, Medical University of Graz, Graz, Austria.
  • Plecko B; Department of Pediatrics and Adolescent Medicine, Division of General Pediatrics, Medical University of Graz, Graz, Austria.
  • Holtgrewe M; Core Unit Bioinformatics (CUBI), Berlin Institute of Health, Berlin, Germany.
  • Seelow D; Institute of Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
  • Blatterer J; Bioinformatics and Translational Genetics, Berlin Institute of Health, Berlin, Germany.
  • Speicher MR; Institute of Human Genetics, Diagnostic and Research Center for Molecular BioMedicine, Medical University of Graz, Graz, Austria.
  • Kornak U; Institute of Human Genetics, Diagnostic and Research Center for Molecular BioMedicine, Medical University of Graz, Graz, Austria.
  • Horn D; Institute of Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
  • Mundlos S; Institute of Human Genetics, University Medical Center Göttingen, Gottingen, Germany.
  • Fischer-Zirnsak B; Institute of Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
  • Boschann F; Institute of Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
J Med Genet ; 59(7): 662-668, 2022 07.
Article in En | MEDLINE | ID: mdl-34379057
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Membrane Transport Proteins / Adenosine Triphosphatases / Neurodevelopmental Disorders / Intellectual Disability / Microcephaly / Nervous System Malformations Type of study: Prognostic_studies Limits: Humans Language: En Journal: J Med Genet Year: 2022 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Membrane Transport Proteins / Adenosine Triphosphatases / Neurodevelopmental Disorders / Intellectual Disability / Microcephaly / Nervous System Malformations Type of study: Prognostic_studies Limits: Humans Language: En Journal: J Med Genet Year: 2022 Document type: Article Affiliation country: Country of publication: