Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense‐mediated mRNA decay

Author:

Jenkins Dagan1,Baynam Gareth2,De Catte Luc3,Elcioglu Nursel4,Gabbett Michael T.56,Hudgins Louanne7,Hurst Jane A.8,Jehee Fernanda Sarquis9,Oley Christine10,Wilkie Andrew O. M.18

Affiliation:

1. Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom

2. Genetic Services of Western Australia, Princess Margaret Hospital for Children and King Edward Memorial Hospital for Women, School of Paediatrics and Child Health, University of Western Australia, Perth, Australia

3. Department of Obstetrics and Gynecology, University Hospital Gasthuisberg, Leuven, Belgium

4. Department of Pediatric Genetics, Marmara University Medical Faculty, Istanbul, Turkey

5. Royal Brisbane & Women's Hospital, The University of Queensland, Brisbane, Australia

6. The University of Queensland, Brisbane, Australia

7. Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford CA, USA

8. Department of Clinical Genetics, Oxford Radcliffe Hospitals NHS Trust, Oxford, United Kingdom

9. Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Universidade de São Paulo, São Paulo, Brazil

10. West Midlands Regional Genetics Service, Birmingham Women's Healthcare NHS Trust, Birmingham, United Kingdom

Funder

Medical Research Council

Wellcome Trust

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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