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Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.
de Greef, Jessica C; Wang, Jun; Balog, Judit; den Dunnen, Johan T; Frants, Rune R; Straasheijm, Kirsten R; Aytekin, Caner; van der Burg, Mirjam; Duprez, Laurence; Ferster, Alina; Gennery, Andrew R; Gimelli, Giorgio; Reisli, Ismail; Schuetz, Catharina; Schulz, Ansgar; Smeets, Dominique F C M; Sznajer, Yves; Wijmenga, Cisca; van Eggermond, Marja C; van Ostaijen-Ten Dam, Monique M; Lankester, Arjan C; van Tol, Maarten J D; van den Elsen, Peter J; Weemaes, Corry M; van der Maarel, Silvère M.
Afiliación
  • de Greef JC; Department of Human Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
  • Wang J; Department of Human Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
  • Balog J; Department of Human Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
  • den Dunnen JT; Department of Human Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
  • Frants RR; Department of Human Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
  • Straasheijm KR; Department of Human Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
  • Aytekin C; Department of Pediatric Immunology, Dr. Sami Ulus Children's Health and Diseases Training and Research Center, 06080 Ankara, Turkey.
  • van der Burg M; Department of Immunology, Erasmus Medical Center, University Medical Center Rotterdam, 3015 CE Rotterdam, The Netherlands.
  • Duprez L; Department of Medical Genetics, Hôpital Erasme-Université Libre de Bruxelles, 1070 Brussels, Belgium.
  • Ferster A; Department of Paediatrics, Haemato-Oncology Unit, Hôpital Universitaire des Enfants Reine Fabiola- Université Libre de Bruxelles, 1020 Brussels, Belgium.
  • Gennery AR; Department 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.
  • Gimelli G; Laboratorio di Citogenetica, Instituto Giannina Gaslini, 16148 Genoa, Italy.
  • Reisli I; Department of Pediatric Immunology and Allergy, Selcuk University, 42003 Konya, Turkey.
  • Schuetz C; Department of Pediatrics and Adolescent Medicine, University Hospital Ulm, 89075 Ulm, Germany.
  • Schulz A; Department of Pediatrics and Adolescent Medicine, University Hospital Ulm, 89075 Ulm, Germany.
  • Smeets DFCM; Department of Human Genetics, Radboud University Nijmegen Medical Centre, 6526 GA Nijmegen, The Netherlands.
  • Sznajer Y; Pediatric Clinical Genetics and Center for Human Genetics, Hôpital Universitaire des Enfants Reine Fabiola (HUDERF), 1020 Brussels, Belgium.
  • Wijmenga C; Genetics Department, University Medical Center and Groningen University, 9713 GZ Groningen, The Netherlands.
  • van Eggermond MC; Department of Immunohematology and Blood Transfusion, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
  • van Ostaijen-Ten Dam MM; Department of Pediatrics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
  • Lankester AC; Department of Pediatrics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
  • van Tol MJD; Department of Pediatrics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
  • van den Elsen PJ; Department of Immunohematology and Blood Transfusion, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands; Department of Pathology, Vrije Universiteit University Medical Center, 1081 HV Amsterdam, The Netherlands.
  • Weemaes CM; Department of Paediatric Infectious Diseases and Immunology, Radboud University Nijmegen Medical Centre, 6526 GA Nijmegen, The Netherlands.
  • van der Maarel SM; Department of Human Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands. Electronic address: maarel@lumc.nl.
Am J Hum Genet ; 88(6): 796-804, 2011 Jun 10.
Article en En | MEDLINE | ID: mdl-21596365
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas Represoras / Centrómero / Dedos de Zinc / Metilación de ADN Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2011 Tipo del documento: Article País de afiliación: Países Bajos
Texto completo
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XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas Represoras / Centrómero / Dedos de Zinc / Metilación de ADN Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2011 Tipo del documento: Article País de afiliación: Países Bajos