Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency-Reference-Cited by-同舟云学术

Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency

Published:2013-11-08 Issue:1 Volume:35 Page:76-85
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Murray Jennie E.¹,Bicknell Louise S.¹,Yigit Gökhan²³,Duker Angela L.⁴,van Kogelenberg Margriet⁵,Haghayegh Sara⁶,Wieczorek Dagmar⁷,Kayserili Hülya⁸,Albert Michael H.⁹,Wise Carol A.¹⁰,Brandon January¹⁰,Kleefstra Tjitske¹¹,Warris Adilia¹²¹³,van der Flier Michiel¹²¹³,Bamforth J. Steven¹⁴,Doonanco Kurston¹⁴,Adès Lesley¹⁵¹⁶,Ma Alan¹⁷,Field Michael¹⁷,Johnson Diana¹⁸,Shackley Fiona¹⁹,Firth Helen²⁰,Woods C. Geoffrey²¹,Nürnberg Peter²²³,Gatti Richard A.⁶,Hurles Matthew⁵,Bober Michael B.⁴,Wollnik Bernd²³,Jackson Andrew P.¹

Affiliation:

1. MRC Human Genetics Unit; Institute of Genetics and Molecular Medicine; University of Edinburgh; Edinburgh UK

2. Institute of Human Genetics; Centre for Molecular Medicine Cologne (CMMC); University of Cologne; Cologne Germany

3. Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD); University of Cologne; Cologne Germany

4. Division of Genetics, Department of Pediatrics; A.I. DuPont Hospital for Children; Wilmington Delaware

5. Wellcome Trust Sanger Institute; Cambridge UK

6. UCLA Department of Pathology & Laboratory Medicine; Los Angeles California

7. Institut für Humangenetik; Universität Duisburg-Essen; Essen Germany

8. Medical Genetics Department; Istanbul Medical Faculty, Istanbul University; Istanbul Turkey

9. Department of Pediatric Hematology/Oncology; Von Hauner University Children's Hospital; Munich Germany

10. Sarah M. and Charles E. Seay Centre for Musculoskeletal Research; Texas Scottish Rite Hospital for Children; Dallas Texas

11. Department of Human Genetics; Radboud University Medical Centre; Nijmegen The Netherlands

12. Department of Paediatric Infectious Diseases and Immunology; Radboud University Medical Centre; Nijmegen The Netherlands

13. Nijmegen Institute for Infection; Inflammation and Immunity; Radboud University Medical Centre; Nijmegen The Netherlands

14. Division of Medical Genetics; Department of Pediatrics; University of Alberta; Edmonton Canada

15. Department of Clinical Genetics, Discipline of Paediatrics; University of Sydney; Sydney Australia

16. The Children's Hospital; Westmead Sydney Australia

17. Department of Medical Genetics; Royal North Shore Hospital; St Leonards NSW Australia

18. Sheffield Clinical Genetics Service; Sheffield Children's Hospital; Sheffield UK

19. Sheffield Immunology & Infectious Disease Service; Sheffield Children's Hospital; Sheffield UK

20. Department of Medical Genetics; Cambridge University Hospitals Foundation Trust; Cambridge UK

21. Cambridge Institute of Medical Research; University of Cambridge; Cambridge UK

22. Cologne Center for Genomics (CCG); University of Cologne; Cologne Germany

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference54 articles.

1. Novel CENPJ mutation causes Seckel syndrome;Al-Dosari;J Med Genet,2010

2. Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish;Asharani;Am J Hum Genet,2012

3. A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome;Ben-Omran;Am J Med Genet A,2005

4. XRCC4 controls nuclear import and distribution of Ligase IV and exchanges faster at damaged DNA in complex with Ligase IV;Berg;DNA Repair (Amst),2011

5. Mutations in the pre-replication complex cause Meier-Gorlin syndrome;Bicknell;Nat Genet,2011a

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