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ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.

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Title: ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.
Authors: Cuvertino S; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, The University of Manchester, M13 9PL Manchester, UK., Stuart HM; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, The University of Manchester, M13 9PL Manchester, UK; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University Foundation NHS Trust, Health Innovation Manchester, M13 9WL Manchester, UK., Chandler KE; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University Foundation NHS Trust, Health Innovation Manchester, M13 9WL Manchester, UK., Roberts NA; Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, M13 9PL, Manchester, UK., Armstrong R; East Anglian Medical Genetics Service, Department of Clinical Genetics, Addenbrooke's Hospital, CB2 0QQ, Cambridge, UK., Bernardini L; Cytogenetics Unit, Casa Sollievo della Sofferenza Hospital, 71013 San Giovanni Rotondo, Italy., Bhaskar S; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University Foundation NHS Trust, Health Innovation Manchester, M13 9WL Manchester, UK., Callewaert B; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium., Clayton-Smith J; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, The University of Manchester, M13 9PL Manchester, UK; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University Foundation NHS Trust, Health Innovation Manchester, M13 9WL Manchester, UK., Davalillo CH; Quantitative Genomic Medicine Laboratories (qGenomics), 08950 Barcelona, Spain., Deshpande C; Clinical Genetics Department, Guy's Hospital, SE1 9RT London, UK., Devriendt K; Center for Human genetics, Katholieke Universiteit Leuven and University Hospital Leuven, B-3000 Leuven, Belgium., Digilio MC; Medical Genetics, Bambino Gesù Pediatric Hospital, IRCCS, 00165 Rome, Italy., Dixit A; Department of Clinical Genetics, Nottingham City Hospital, NG5 1PB Nottingham, UK., Edwards M; Department of Paediatrics, School of Medicine, University of Western Sydney, NSW 2751, New South Wales, Australia., Friedman JM; Department of Medical Genetics, University of British Columbia, BC V6T 1Z4 Vancouver, Canada., Gonzalez-Meneses A; Servicio de Pediatría, Hospital Viamed Santa Ángela de la Cruz, 41014 Sevilla, Spain., Joss S; West of Scotland Genetics Service, Queen Elizabeth University Hospital, G51 4TF Glasgow, UK., Kerr B; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University Foundation NHS Trust, Health Innovation Manchester, M13 9WL Manchester, UK., Lampe AK; South East of Scotland Clinical Genetic Department, Western General Hospital, EH4 2XU Edinburgh, UK., Langlois S; Department of Medical Genetics, University of British Columbia, BC V6T 1Z4 Vancouver, Canada., Lennon R; Wellcome Centre for Cell-Matrix Research, Division of Cell-Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, M13 9PL Manchester, UK., Loget P; Service d'Anatomie Pathologique, Hôpital Pontchaillou, University Rennes 1, 35000 Rennes, France., Ma DYT; Department of Medical Genetics, University of British Columbia, BC V6T 1Z4 Vancouver, Canada., McGowan R; West of Scotland Genetics Service, Queen Elizabeth University Hospital, G51 4TF Glasgow, UK., Des Medt M; Center for Human genetics, Katholieke Universiteit Leuven and University Hospital Leuven, B-3000 Leuven, Belgium., O'Sullivan J; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, The University of Manchester, M13 9PL Manchester, UK; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University Foundation NHS Trust, Health Innovation Manchester, M13 9WL Manchester, UK., Odent S; Service de Génétique Clinique, Centre de Référence 'Maladies Rares' CLAD-Ouest, Hôpital SUD, University Rennes 1, UMR 6290, 35000 Rennes, France., Parker MJ; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Western Bank, S20 1NZ Sheffield, UK., Pebrel-Richard C; Service de Cytogénétique Médicale, Centre Hospitalier Régional Clermont-Ferrand, 63000 Clermont-Ferrand, France., Petit F; Service de Genetique Clinique, Centre Hospitalier Régional Lille, 59000 Lille, France., Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, VIC 3052 Melbourne, Australia., Stockler-Ipsiroglu S; Department of Medical Genetics, University of British Columbia, BC V6T 1Z4 Vancouver, Canada., Tinschert S; Zentrum Medizinische Genetik, Medical University of Innsbruck, 6020 Innsbruck, Austria., Vasudevan P; Department of Clinical Genetics, University Hospitals of Leicester NHS Trust, Leicester Royal Infirmary, LE1 5WW Leicester, UK., Villa O; Quantitative Genomic Medicine Laboratories (qGenomics), 08950 Barcelona, Spain., White SM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, VIC 3052 Melbourne, Australia; Department of Paediatrics, University of Melbourne, VIC 3010, Melbourne, Australia., Zahir FR; Department of Medical Genetics, University of British Columbia, BC V6T 1Z4 Vancouver, Canada; Qatar Biomedical Research Institute, Hamad Bin Khalifa University, 34110 Doha, Qatar., Woolf AS; Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, M13 9PL, Manchester, UK; Department of Nephrology, Royal Manchester Children's Hospital, Manchester Academic Health Science Centre, M13 9WL Manchester, UK., Banka S; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, The University of Manchester, M13 9PL Manchester, UK; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University Foundation NHS Trust, Health Innovation Manchester, M13 9WL Manchester, UK. Electronic address: siddharth.banka@manchester.ac.uk.
Corporate Authors: DDD Study; Wellcome Trust Sanger Institute, CB10 1SA Cambridge, UK.
Source: American journal of human genetics [Am J Hum Genet] 2017 Dec 07; Vol. 101 (6), pp. 1021-1033.
Publication Type: Journal Article
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
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