Mutations in ZBTB24 Are Associated with Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome Type 2

The American Journal of Human Genetics - Tập 88 Số 6 - Trang 796-804 - 2011
Jessica C. de Greef1, Jun Wang1, Judit Balog1, Johan T. den Dunnen1, Rune R. Frants1, Kirsten R. Straasheijm1, Caner Aytekin2, Mirjam van der Burg3, Laurence Duprez4, Alina Ferster5, Andrew R. Gennery6, Giorgio Gimelli7, İsmail Reisli8, Catharina Schuetz9, Ansgar Schulz9, Dominique Smeets10, Yves Sznajer11, Cisca Wijmenga12, M C van Eggermond13, Monique M. van Ostaijen-ten Dam14, Arjan C. Lankester14, Maarten J. D. van Tol14, Peter J. van den Elsen13,15, Corry M.R. Weemaes16, Silvère M. van der Maarel1
1Department of Human Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands
2Department of Pediatric Immunology, Dr. Sami Ulus Children's Health and Diseases Training and Research Center, 06080 Ankara, Turkey
3Department of Immunology, Erasmus Medical Center, University Medical Center Rotterdam, 3015 CE Rotterdam, The Netherlands.
4Department of Medical Genetics, Hôpital Erasme-Université Libre de Bruxelles, 1070 Brussels, Belgium
5Department of Paediatrics, Haemato-Oncology Unit, Hôpital Universitaire des Enfants Reine Fabiola- Université Libre de Bruxelles, 1020 Brussels, Belgium.
6Department of Paediatric Immunology, Newcastle Upon Tyne Hospital, NHS Foundation Trust, Newcastle Upon Tyne, UK and Institute of Cellular Medicine, Newcastle University, Newcastle Upon Tyne NE7 7DN, UK.
7Laboratorio di Citogenetica, Instituto Giannina Gaslini, 16148 Genoa, Italy
8Department of Pediatric Immunology and Allergy, Selcuk University, 42003 Konya, Turkey
9Department of Pediatrics and Adolescent Medicine, University Hospital Ulm, 89075 Ulm, Germany
10Department of Human Genetics, Radboud University Nijmegen Medical Centre, 6526 GA Nijmegen, The Netherlands
11Pediatric Clinical Genetics and Center for Human Genetics, Hôpital Universitaire des Enfants Reine Fabiola (HUDERF), 1020 Brussels, Belgium
12Genetics Department, University Medical Center and Groningen University, 9713 GZ Groningen, The Netherlands.
13Department of Immunohematology and Blood Transfusion, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands
14Department of Pediatrics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands
15Department of Pathology, Vrije Universiteit University Medical Center, 1081 HV Amsterdam, The Netherlands
16Department of Paediatric Infectious Diseases and Immunology, Radboud University Nijmegen Medical Centre, 6526 GA Nijmegen, The Netherlands.

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