Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome)

Journal of Medical Genetics - Tập 45 Số 2 - Trang 93-99
Melanie M. Hagleitner1, Arjan C. Lankester2, P Maraschio3, Maj Hultén4, J. P. Fryns5, Catharina Schuetz6, Giorgio Gimelli7, E. Graham Davies8, A Gennery9, B. H. Belohradsky10, Ronald de Groot1, E.J.A. Gerritsen11, Teresa Mattina12, P. J. Howard13, Anders Fasth14, İsmail Reisli15, Dieter Furthner16, Mary Slatter9, A J Cant9, G Cazzola17, P J van Dijken18, Marcel van Deuren19, Jessica C. de Greef20, Silvère M. van der Maarel20, Corry M.R. Weemaes21
1Department of Paediatric Immunology, Radboud University Nijmegen Medical Centre, The Netherlands
2Department of Paediatrics, Leiden University Medical Centre, The Netherlands
3Dipartimento di Patologia Umana ed Ereditaria, Biologica Generale e Genetica Medica, Universitè di Pavia, Italy
4Department of Biological Sciences, University of Warwick, Coventry, UK
5Centre of Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium
6University Hospital Ulm, Paediatrics, Germany
7Laboratorio di Citogenetia, Instituto G Galini, Genova, Italy
8Department of Immunology, Great Ormond Street Hospital, London, UK
9Paediatric Immunology Department, Newcastle General Hospital, Newcastle, UK
10Department of Infectious Diseases and Immunology, University Children's Hospital Munich, Germany
11Department of Paediatrics, Oosterschelde Hospital, Goes, The Netherlands
12Dipartimento di Pediatrica, Genetica Medica University of Catania, Italy
13Merseyside & Cheshire Regional Genetics Laboratory Liverpool Women's Hospital, Liverpool, UK
14Department of Paediatrics, The Sahlgrenska Academy Göteborg, Sweden
15Department of Pediatric Immunology and Allergy, Selcuk University, Turkey
16Landesfrauen- & Kinderklinik Linz, Austria
17Centro Fibrosi Cistica, Verona, Italy
18Department of Paediatrics, Elisabeth Hospital Tilburg, The Netherlands
19Department of Internal Medicine, Radboud University Nijmegen Medical Centre, The Netherlands
20Department of Human Genetics, Leiden University Medical Centre, The Netherlands
21Department of Pediatric Immunology, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands

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Journal of Medical Genetics

Tập 45 Số 2

93-99

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