Expanding the mutation spectrum in ICF syndrome: Evidence for a gender bias in ICF2-Reference-Cited by-同舟云学术

Expanding the mutation spectrum in ICF syndrome: Evidence for a gender bias in ICF2

Published:2017-03-07 Issue:4 Volume:92 Page:380-387
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

van den Boogaard M.L.¹^ORCID,Thijssen P.E.¹²,Aytekin C.³,Licciardi F.⁴,Kıykım A.A.⁵,Spossito L.⁶,Dalm V.A.S.H.⁷⁸,Driessen G.J.⁹¹⁰,Kersseboom R.¹¹¹²,de Vries F.¹¹,van Ostaijen-ten Dam M.M.¹³,Ikinciogullari A.¹⁴,Dogu F.¹⁴,Oleastro M.⁶,Bailardo E.¹⁵,Daxinger L.¹,Nain E.⁵,Baris S.⁵,van Tol M.J.D.¹³,Weemaes C.¹⁶,van der Maarel S.M.¹

Affiliation:

1. Department of Human Genetics; Leiden University Medical Center; Leiden The Netherlands

2. Department of Clinical Genetics; Leiden University Medical Center; Leiden The Netherlands

3. Department of Pediatric Immunology; Dr Sami Ulus Maternity and Children's Research and Educational Hospital; Ankara Turkey

4. Department of Paediatrics II; Regina Margherita Hospital Città della Salute e della Scienza di Torino; Torino Italy

5. Pediatric Allergy and Immunology; Marmara University Pendik Training and Research Hospital; Istanbul Turkey

6. Department of Immunology and Rheumatology; Hospital “J.P Garrahan”; Buenos Aires Argentina

7. Department of Immunology; Erasmus MC, University Medical Centre; Rotterdam The Netherlands

8. Department of Internal Medicine, Division of Clinical Immunology; Erasmus MC, University Medical Centre; Rotterdam The Netherlands

9. Department of Paediatric Infectious Diseases; Erasmus MC, University Medical Centre; Rotterdam The Netherlands

10. Department of Pediatrics, Juliana Children's Hospital; Haga Teaching Hospital; The Hague The Netherlands

11. Department of Clinical Genetics; Erasmus MC, University Medical Centre; Rotterdam The Netherlands

12. Medical service; Stichting Zuidwester; Middelharnis The Netherlands

13. Department of Pediatrics; Laboratory Immunology, Leiden University Medical Center; Leiden The Netherlands

14. Department of Pediatric Immunology and Allergy; Ankara University School of Medicine; Ankara Turkey

15. Department of Genetics; Hospital “J.P. Garrahan”; Buenos Aires Argentina

16. Department of Pediatric Infectious Diseases and Immunology; Radboud University Nijmegen Medical Centre; Nijmegen The Netherlands

Funder

LUMC van de Kamp fonds

KWF Kankerbestrijding

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.12979/fullpdf

Reference39 articles.

1. Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome);Hagleitner;J Med Genet,2008

2. Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects;Weemaes;Eur J Hum Genet,2013

3. Hematopoietic stem cell transplantation corrects the immunologic abnormalities associated with immunodeficiency-centromeric instability-facial dysmorphism syndrome;Gennery;Pediatrics,2007

4. Hematopoietic stem cell transplantation in a patient with ICF2 syndrome presenting with EBV-induced hemophagocytic lymphohystiocytosis;Harnisch;Transplantation,2016

5. ICF syndrome: a new case and review of the literature;Smeets;Hum Genet,1994

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