1 Gain-Of-Function Mutations of ARHGAP31, a Cdc42/Rac1
Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies Laura Southgate,1,12 Rajiv D. Machado,1,12 Katie M. Snape,1,12 Martin Primeau,2 Dimitra Dafou,1 Deborah M. Ruddy,3 Peter A. Branney,4 Malcolm Fisher,4 Grace J. Lee,1 Michael A. Simpson,1 Yi He,2 Teisha Y. Bradshaw,1 Bettina Blaumeiser,5 William S. Winship,6 Willie Reardon,7 Eamonn R. Maher,8,9 David R. FitzPatrick,4 Wim Wuyts,5 Martin Zenker,10,11 Nathalie Lamarche-Vane2 and Richard C. Trembath1,3,* Author affiliations: 1King’s College London, Department of Medical and Molecular Genetics, School of Medicine, Guy’s Hospital, London, SE1 9RT, United Kingdom; 2McGill University, Department of Anatomy and Cell Biology, 3640 University Street, Montreal, Quebec, Canada; 3Department of Clinical Genetics, Guy’s Hospital, London, SE1 9RT, United Kingdom; 4MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh, EH4 2XU, United Kingdom; 5Department of Medical Genetics, University and University Hospital of Antwerp, Prins Boudewijnlaan 43, 2650 Edegem, Belgium; 6Nelson R Mandela School of Medicine, Faculty of Health Sciences, Department of Paediatrics and Child Health, University of KwaZulu-Natal, Durban 4041, South Africa; 7National Centre for Medical Genetics, Our Lady's Hospital for Sick Children, Crumlin, Dublin 12, Ireland; 8Medical and Molecular Genetics, School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, Institute of Biomedical Research, Birmingham, B15 2TT, United Kingdom; 9West Midlands Regional Genetics Service, Birmingham Women's Hospital, Birmingham, B15 2TG, United Kingdom; 10Institute of Human Genetics, University Hospital Erlangen, University of Erlangen- Nuremberg, Schwabachanlage 10, 91054, Erlangen, Germany; 11Institute of Human Genetics, University Hospital Magdeburg, Leipziger Str.
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