WRNMutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects

Author:

Yokote Koutaro1,Chanprasert Sirisak2,Lee Lin3,Eirich Katharina4,Takemoto Minoru1,Watanabe Aki1,Koizumi Naoko1,Lessel Davor5,Mori Takayasu6,Hisama Fuki M.2,Ladd Paula D.3,Angle Brad7,Baris Hagit8,Cefle Kivanc9,Palanduz Sukru9,Ozturk Sukru9,Chateau Antoinette10,Deguchi Kentaro11,Easwar T.K.M12,Federico Antonio13,Fox Amy14,Grebe Theresa A.15,Hay Beverly16,Nampoothiri Sheela17,Seiter Karen18,Streeten Elizabeth19,Piña-Aguilar Raul E.20,Poke Gemma21,Poot Martin22,Posmyk Renata2324,Martin George M.3,Kubisch Christian5,Schindler Detlev4,Oshima Junko13

Affiliation:

1. Department of Clinical Cell Biology and Medicine, Graduate School of Medicine; Chiba University; Chiba Japan

2. Department of Medicine, Division of Medical Genetics; University of Washington; Seattle Washington

3. Department of Pathology; University of Washington; Seattle Washington

4. Department of Human Genetics; University of Wuerzburg; Wuerzburg Germany

5. Institute of Human Genetics; University Medical Center Hamburg-Eppendorf; Hamburg Germany

6. Department of Pediatrics, Division of Genetic Medicine; University of Washington; Seattle Washington

7. Advocate Lutheran General Hospital and Advocate Children's Hospital; Park Ridge Illinois

8. The Genetics Institute, Rambam Health Care Campus and Rappaport School of Medicine; Technion - Israel Institute of Technology; Haifa Israel

9. Department of Internal Medicine, Division of Medical Genetics, Istanbul Medical Faculty; Istanbul University; Turkey

10. Department of Dermatology; Greys Hospital; Pietermaritzburg South Africa

11. Department of Neurology; Okayama City Hospital; Okayama Japan

12. Milestone Hospital; Rajkot India

13. Department of Medicine, Surgery and Neurosciences, Unit Clinical Neurology and Neurometabolic Diseases, Medical School; University of Siena; Siena Italy

14. Department of Dermatology; University of North Carolina; Chapel Hill North Carolina

15. Division of Genetics and Metabolism; Phoenix Children's Hospital; Phoenix Arizona

16. Division of Genetics; UMass Memorial Medical Center; Worcester Massachusetts

17. Department of Pediatric Genetics; Amrita Institute of Medical Sciences and Research Center; Kochi Kerala India

18. Department of Medicine; New York Medical College; Hawthorne New York

19. Division of Genetics; University of Maryland School of Medicine; Baltimore Maryland

20. Centro Médico Nacional 20 de Noviembre; ISSSTE; Mexico City Mexico

21. Genetic Health Service NZ; Wellington New Zealand

22. University Medical Center; Utrecht Netherlands

23. Department of Clinical Genetics; Podlaskie Medical Center; Bialystok Poland

24. Department of Perinatology; Medical University of Bialystok; Bialystok Poland

Funder

National Institutes of Health

National Institute on Aging

National Cancer Institute

Ministry of Health, Labour and Welfare of Japan

Agency for Medical Research and Development (AMED)

Ministry of Education, Culture, Sports, Science and Technology of Japan

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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