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

Sara Cuvertino(University of Manchester), Siddharth Banka(University of Manchester), Sylvie Langlois(University of British Columbia), Rachel Lennon(University of Exeter), Charu Deshpande(Guy's Hospital), M. Cristina Digilio(Bambino Gesù Children's Hospital), Pradeep Vasudevan(Leicester Royal Infirmary), Sigrid Tinschert(Innsbruck Medical University), Florence Petit(Centre Hospitalier Universitaire de Lille), Bert Callewaert(University College Ghent), Laura Bernardini(Casa Sollievo della Sofferenza), Sanjeev S. Bhaskar(Manchester Metropolitan University), Farah Zahir(University of British Columbia), Olaya Villa(Quantitative Genomics Medicine Laboratories (qGenomics)), Maryse Des Medt(KU Leuven), Céline Pebrel‐Richard(Centre Hospitalier Universitaire de Clermont-Ferrand), Jan M. Friedman(University of British Columbia Hospital), Antonio González‐Meneses(Hospital Universitario Virgen del Rocío), Sylvia Stöckler‐Ipsiroglu(Vienna General Hospital), David Y.T.(University of British Columbia), Jill Clayton‐Smith(St Mary's Hospital), Adrian S. Woolf(Manchester Academic Health Science Centre), Susan M. White(The University of Melbourne), Zornitza Stark(Zoos Victoria), Michael Parker(University of Oxford), Philippe Loget(Hôpital Pontchaillou), Koenraad Devriendt(Universitair Ziekenhuis Leuven), Cristina Hernando Davalillo(Quantitative Genomics Medicine Laboratories (qGenomics)), Bronwyn Kerr(Manchester Academic Health Science Centre), Sylvie Odent(Institut de génétique et de développement de Rennes), Helen M. Stuart(University of Manchester), Matthew Edwards(New South Wales Department of Health), James D.B. O’Sullivan(University of Manchester), Neil Roberts(University of Manchester), Anne Katrin Lampe(Western General Hospital), Shelagh Joss(Queen Elizabeth University Hospital), Kate Chandler(University of Manchester), Abhijit Dixit(Nottingham City Hospital), Ruth Armstrong(Addenbrooke's Hospital), Ruth McGowan(Queen Elizabeth University Hospital)
The American Journal of Human Genetics
December 1, 2017
Cited by 141


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