Comprehensive genetic screening for vascular Ehlers–Danlos syndrome through an amplification‐based next‐generation sequencing system-Reference-Cited by-同舟云学术

Comprehensive genetic screening for vascular Ehlers–Danlos syndrome through an amplification‐based next‐generation sequencing system

Published:2022-10-03 Issue:1 Volume:191 Page:37-51
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Yamaguchi Tomomi¹²³,Hayashi Shujiro⁴,Hayashi Daisuke⁵,Matsuyama Takeshi⁶,Koitabashi Norimichi⁷,Ogiwara Kenichi⁸,Noda Masaaki⁹¹⁰,Nakada Chiai¹¹,Fujiki Shinya¹²¹³,Furutachi Akira¹⁴,Tanabe Yasuhiko¹⁵,Yamanaka Michiko¹⁶,Ishikawa Aki¹⁷,Mizukami Miyako¹⁷¹⁸,Mizuguchi Asako¹⁹,Sugiura Kazumitsu²⁰,Sumi Makoto²¹,Yamazawa Hirokuni²²²³,Izawa Atsushi²⁴²⁵,Wada Yuko²⁶,Fujikawa Tomomi³,Takiguchi Yuri³,Wakui Keiko¹²,Takano Kyoko¹²^ORCID,Nishio Shin‐Ya²⁷,Kosho Tomoki¹²³²⁸^ORCID

Affiliation:

1. Department of Medical Genetics Shinshu University School of Medicine Matsumoto Japan

2. Center for Medical Genetics Shinshu University Hospital Matsumoto Japan

3. Division of Clinical Sequencing Shinshu University School of Medicine Matsumoto Japan

4. Department of Dermatology Dokkyo Medical University Mibu Japan

5. Department of Dermatology Osaka Metropolitan University Osaka Japan

6. Department of Pediatrics Fussa Hospital Tokyo Japan

7. Department of Cardiovascular Medicine Gunma University Graduate School of Medicine Maebashi Japan

8. Department of Pediatrics Nara Medical University Nara Japan

9. Department of Hematology Hiroshima City Hiroshima Citizens Hospital Hiroshima Japan

10. Noda Family Clinic Hiroshima Japan

11. Division of Rheumatology Yuuai Medical Center Tomigusuku Japan

12. Division of Cardiology, Department of Medicine Tsuruoka Municipal Shonai Hospital Tsuruoka Japan

13. Department of Cardiovascular Medicine Niigata University Graduate School of Medical and Dental Sciences Niigata Japan

14. Department of Thoracic and Cardiovascular Surgery National Hospital Organization Ureshino Medical Center Saga Japan

15. Department of Cardiology Niigata Prefectural Shibata Hospital Shibata Japan

16. Center for Medical Genetics St. Luke's International Hospital Tokyo Japan

17. Department of Medical Genetics Sapporo Medical University School of Medicine Sapporo Japan

18. Department of Pediatrics Sapporo Maternity Women's Hospital Sapporo Japan

19. Department of Neurosurgery, Faculty of Medicine University of Miyazaki Miyazaki Japan

20. Department of Dermatology Fujita Health University School of Medicine Toyoake Japan

21. Department of Cardiovascular Surgery Saitama Cardiovascular and Respiratory Center Saitama Japan

22. Department of Pediatrics, Faculty of Medicine and Graduate School of Medicine Hokkaido University Sapporo Japan

23. Division of Clinical Genetics Hokkaido University Hospital Sapporo Japan

24. Department of Cardiovascular Medicine Shinshu University School of Medicine Matsumoto Japan

25. School of Health Sciences Shinshu University Matsumoto Japan

26. Division of Cardiovascular Surgery, Department of Surgery Shinshu University School of Medicine Matsumoto Japan

27. Department of Hearing Implant Science Shinshu University School of Medicine Matsumoto Japan

28. Research Center for Supports to Advanced Science Shinshu University Matsumoto Japan

Funder

Japan Agency for Medical Research and Development

Ministry of Health, Labour and Welfare

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62982

Reference38 articles.

1. Ehlers-Danlos syndromes: Revised nosology, Villefranche, 1997

2. Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation

3. Ehlers-Danlos syndrome, classical type

4. Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome

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