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Akademický článek

Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome.

Autor: Oh RY; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Deshwar AR; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada; Program in Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada., Marwaha A; Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada., Sabha N; Program in Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada., Tropak M; Program in Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada., Hou H; Program in Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada., Yuki KE; Program in Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada., Wilson MD; Program in Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada., Rump P; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands., Lunsing R; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands., Elserafy N; Department of Clinical Genetics, Liverpool Hospital, Sydney, New South Wales, Australia., Chung CWT; Department of Clinical Genetics, Liverpool Hospital, Sydney, New South Wales, Australia; School of Women's and Children's Health, University of New South Wales, Sydney, New South Wales, Australia., Hewson S; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Klein-Rodewald T; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Ingolstaedter Landstraße, Neuherberg, Germany., Calzada-Wack J; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Ingolstaedter Landstraße, Neuherberg, Germany., Sanz-Moreno A; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Ingolstaedter Landstraße, Neuherberg, Germany., Kraiger M; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Ingolstaedter Landstraße, Neuherberg, Germany., Marschall S; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Ingolstaedter Landstraße, Neuherberg, Germany., Fuchs H; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Ingolstaedter Landstraße, Neuherberg, Germany., Gailus-Durner V; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Ingolstaedter Landstraße, Neuherberg, Germany., Hrabe de Angelis M; German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Ingolstaedter Landstraße, Neuherberg, Germany; Chair of Experimental Genetics, TUM School of Life Sciences, Technische Universität München, Freising, Germany; German Center for Diabetes Research (DZD), Ingolstaedter Landstraße, Neuherberg, Germany., Dowling J; Program in Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada; Division of Neurology, The Hospital for Sick Children, Toronto, Ontario, Canada., Schulze A; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada; Program in Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada; Departments of Paediatrics and Biochemistry, University of Toronto, Toronto, Ontario, Canada. Electronic address: andreas.schulze@sickkids.ca.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Nov; Vol. 24 (11), pp. 2399-2407. Date of Electronic Publication: 2022 Sep 09.

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