Frontometaphyseal dysplasia: Mutations in FLNA and phenotypic diversity (Am J Med Genet 140A: 1726–1736)

Abstract

Stephen P. Robertson,* Zandra A. Jenkins, Timothy Morgan, Lesley Ades, Salim Aftimos, Odile Boute, Torunn Fiskerstrand, Sixto Garcia-Minaur, Arthur Grix, Andrew Green, Vazken Der Kaloustian, Ray Lewkonia, Brenda McInnes, Mieke M. van Haelst, Grazia Macini, Tamas Illes, Geert Mortier, Ruth Newbury-Ecob, Linda Nicholson, Charles I. Scott, Karolina Ochman, Izabela Brozek, Deborah J. Shears, Andrea Superti-Furga, Mohnish Suri, Margo Whiteford, Andrew O.M. Wilkie, and Deborah Krakow Department of Paediatrics and Child Health, Dunedin School of Medicine, Dunedin, New Zealand Department of Medical Genetics, The Children’s Hospital at Westmead, Sydney, Australia Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia Northern Regional Genetics Service, Auckland, New Zealand Genetics Service, Jeanne de Flandre Hospital, Lille, France Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway Genetics Service, Western General Hospital, Edinburgh, United Kingdom Permanente Medical Group, Sacramento, California Department of Medical Genetics, Our Lady’s Hospital for Sick Children, Dublin, Ireland Division of Medical Genetics, McGill University, Montreal Children’s Hospital, Montreal, Canada Department of Medical Genetics, Alberta Children’s Hospital, Calgary, Canada Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands Department of Orthopedic Surgery, University of Pecs, Pecs, Hungary Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium Clinical Genetics Service, United Bristol Hospitals Trust, Bristol, United Kingdom Division of Medical Genetics, DuPont Hospital for Children, Wilmington, Delaware Department of Biology and Genetics, Medical University of Gdansk, Gdansk, Poland Clinical and Molecular Genetics Unit, Institute for Child Health, London, United Kingdom Department of Paediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany Clinical Genetics Service, City Hospital, Nottingham, United Kingdom Ferguson-Smith Centre for Medical Genetics, Glasgow, United Kingdom Weatherall Institute of Molecular Medicine, The John Radcliffe, Oxford, United Kingdom Cedars Sinai Medical Research Institute, Los Angeles, California