Macrocephaly and developmental delay caused by missense variants in RAB5C.

Autor: Koop K; Department of Pediatrics, University Medical Center Utrecht, Utrecht, 3584 EA, The Netherlands., Yuan W; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA., Tessadori F; Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, 3584 CT, The Netherlands., Rodriguez-Polanco WR; Department of Molecular Biology and Biochemistry, Rutgers, The State University of New Jersey, Piscataway, NJ, 08854, USA., Grubbs J; Department of Neurology and the Chronobiology and Sleep Institute, University of Pennsylvania, Philadelphia, PA, 19104, USA., Zhang B; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA., Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, K1H 8L1, Canada., Graham G; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, K1H 8L1, Canada., Sawyer S; Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, K1H 8L1, Canada., Conboy E; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA., Vetrini F; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA., Treat K; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA., Płoski R; Department of Medical Genetics, Medical University of Warsaw, Warsaw, 02-106, Poland., Pienkowski VM; Department of Medical Genetics, Medical University of Warsaw, Warsaw, 02-106, Poland.; Marseille Medical Genetics U1251, Aix Marseille University, Marseille, 13005, France., Kłosowska A; Department of Pediatrics, Hematology and Oncology, Medical University of Gdańsk, Gdańsk, 80-210, Poland., Fieg E; Brigham and Women's Hospital, Boston, MA, 02115, USA.; Harvard Medical School, Boston, MA, 02115, USA., Krier J; Brigham and Women's Hospital, Boston, MA, 02115, USA.; Harvard Medical School, Boston, MA, 02115, USA., Mallebranche C; Unité d'Onco-Hémato-Immunologie pédiatrique, CHU d'Angers, Angers, 49933, France., Alban Z; Service de génétique, CHU d'Angers, Angers, 49933, France., Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, 98195, USA.; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, 98195, USA., Ritter D; Department of Pediatrics, Oncology Section, Baylor College of Medicine, Houston, TX, 77030, USA., Macnamara E; Undiagnosed Diseases Program Translational Laboratory, NHGRI, National Institutes of Health, Bethesda, MD, 20892, USA., Sullivan B; Division of Clinical Genetics, Department of Pediatrics, Children's Mercy-Kansas City, Kansas City, MO, 64108, USA., Herriges J; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, Kansas City, MO, 64108, USA., Alaimo JT; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, Kansas City, MO, 64108, USA., Helbig C; The Epilepsy Neurogenetics Initiative, Division of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA., Ellis CA; Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia PA, 19104, USA., van Eyk C; Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA, 5006, Australia., Gecz J; Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA, 5006, Australia., Farrugia D; Haematology, Mater Dei Hospital, Msida, MSD2090, Malta., Osei-Owusu I; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA., Adès L; Department of Clinical Genetics, The Children's Hospital at Westmead Clinical School, Faculty of Medicine and Health, University of Sydney, Sydney, 2145, Australia., van den Boogaard MJ; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, 3584EA, The Netherlands., Fuchs S; Department of Pediatrics, University Medical Center Utrecht, Utrecht, 3584 EA, The Netherlands., Bakker J; Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, 3584 CT, The Netherlands., Duran K; Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, 3584 CT, The Netherlands., Dawson ZD; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA., Lindsey A; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA., Huang H; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA., Baldridge D; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA., Silverman GA; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA., Grant BD; Department of Molecular Biology and Biochemistry, Rutgers, The State University of New Jersey, Piscataway, NJ, 08854, USA., Raizen D; Department of Neurology and the Chronobiology and Sleep Institute, University of Pennsylvania, Philadelphia, PA, 19104, USA., van Haaften G; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, 3584EA, The Netherlands., Pak SC; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA., Rehmann H; Department of Energy and Biotechnology, Flensburg University of Applied Sciences, 24943, Flensburg, Germany., Schedl T; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA., van Hasselt P; Department of Pediatrics, University Medical Center Utrecht, Utrecht, 3584 EA, The Netherlands.

Publikováno v: Human molecular genetics [Hum Mol Genet] 2023 Oct 17; Vol. 32 (21), pp. 3063-3077.