ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome.

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Published in Cell Death Differ on July 22, 2016

Authors

J Zak1, V Vives1, D Szumska2, A Vernet2, J E Schneider2, P Miller1, E A Slee1, S Joss3, Y Lacassie4,5, E Chen6, L F Escobar7, M Tucker7, A S Aylsworth8, H A Dubbs9, A T Collins10, J Andrieux11, A Dieux-Coeslier12, E Haberlandt13, D Kotzot14, D A Scott15, M J Parker16, Z Zakaria17, Y S Choy18, D Wieczorek19,20, A M Innes21, K R Jun22, S Zinner10, F Prin23, C A Lygate2, P Pretorius24, J A Rosenfeld15, T J Mohun23, X Lu1

Author Affiliations

1: Ludwig Institute for Cancer Research, Nuffield Department of Clinical Medicine, University of Oxford, Oxford OX3 7DQ, UK.
2: Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford OX3 7BN, UK.
3: Queen Elizabeth University Hospital Glasgow, Glasgow G51 4TF, UK.
4: Department of Pediatrics, Louisiana State University, New Orleans, LA 70118, USA.
5: Genetics Services, Children's Hospital New Orleans, New Orleans, LA 70118, USA.
6: Kaiser Permanente, San Francisco Medical Center, San Francisco, CA 94115, USA.
7: St Vincent Children's Hospital, Indianapolis, IN 46260, USA.
8: Departments of Pediatrics and Genetics, University of North Carolina, Chapel Hill, NC 27599, USA.
9: Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
10: Seattle Children's Hospital, Seattle, WA 98105, USA.
11: Institute of Medical Genetics, Jeanne de Flandre Hospital, CHRU de Lille, Lille 59000, France.
12: CHU Lille, Clinique de Génétique, Lille F-59000, France.
13: Clinical Department of Pediatrics, Innsbruck Medical University, Innsbruck A-6020, Austria.
14: Division of Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck A-6020, Austria.
15: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
16: Sheffield Children's Hospital NHS Foundation Trust, Western Bank, Sheffield, S10 2TH, UK.
17: Institute for Medical Research, Kuala Lumpur, Jalan Pahang 50588, Malaysia.
18: Prince Court Medical Centre, Kuala Lumpur 50450, Malaysia.
19: Institute of Human Genetics, University Clinic Essen, Duisburg-Essen University, Essen 45122, Germany.
20: Institute of Human Genetics, University Clinic, Heinrich-Heine University, Düsseldorf 40225, Germany.
21: Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada T3B 6A8.
22: Department of Laboratory Medicine, Haeundae Paik Hospital, Inje University, Haeundae-gu, Busan, Korea.
23: The Francis Crick Institute Mill Hill Laboratory, London NW7 1AA, UK.
24: Department of Neuroradiology, John Radcliffe Hospital, Oxford University Hospitals NHS Trust, Oxford OX3 9DU, UK.

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