Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects

European Journal of Human Genetics - Tập 21 Số 11 - Trang 1219-1225 - 2013
Corry M.R. Weemaes1, Maarten JD van Tol2, Jun Wang3,4, Monique M. van Ostaijen-ten Dam2, Marja CJA van Eggermond5, Peter Thijssen4, Caner Aytekin6, Nicola Brunetti‐Pierri7, Mirjam van der Burg8, E. Graham Davies9, Alina Ferster10, Dieter Furthner11, Giorgio Gimelli12, A Gennery13, Barbara Kloeckener‐Gruissem14,15, M. Stephen Meyn16, Cynthia M. Powell17, İsmail Reisli18, Catharina Schuetz19, Ansgar Schulz19, Andrea Shugar16, Peter J. van den Elsen5,20, Silvère M. van der Maarel4
1Department of Pediatric Infectious Diseases and Immunology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
2Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands
320Current address: Institutes of Biology and Medical Sciences, Soochow University, Suzhou, China.,
4Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
5Department of Immunohaematology and Blood Transfusion, Leiden University Medical Center, Leiden, The Netherlands
6Department of Pediatric Immunology, Dr. Sami Ulus Maternity and Children’s, Research and Educational Hospital, Ankara, Turkey
7Department of Pediatrics, “Federico II” University of Naples, Naples, Italy
8Department of Immunology, Erasmus Medical Center, Rotterdam, The Netherlands
9Centre for Immunodeficiency, Great Ormond Street Hospital and Institute of Child Health, London, UK
10Department of Pediatrics, Haemato-Oncology Unit, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, Belgium
11Landesfrauen und Kinderklinik, Linz, Austria
12Laboratorio di Citogenetica, Instituto G Gaslini, Genova, Italy
13Department of Paediatric Immunology, Newcastle Upon Tyne Hospital, NHS Foundation Trust, United Kingdom and Institute of Cellular Medicine, Newcastle University, Newcastle Upon Tyne, UK
14Department of Biology, ETHZ, Zurich, Switzerland;
15Institute of Medical Molecular Genetics, University of Zurich, Zurich, Switzerland
16Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada
17Department of Pediatrics, The University of North Carolina at Chapel Hill, Chapel Hill, USA
18Department of Pediatric Immunology and Allergy, Necmettin Erbakan University, Meram Medical Faculty, Konya, Turkey
19Department of Pediatrics and Adolescent Medicine, University Hospital Ulm, Ulm, Germany
20Department of Pathology, VU University Medical Center, Amsterdam, The Netherlands

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Thông tin xuất bản

European Journal of Human Genetics

Tập 21 Số 11

1219-1225

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