Clinical and molecular features of patients with <scp> <i>COL1</i> </scp> ‐related disorders: Implications for the wider spectrum and the risk of vascular complications-Reference-Cited by-同舟云学术

Clinical and molecular features of patients with COL1 ‐related disorders: Implications for the wider spectrum and the risk of vascular complications

Published:2022-07-13 Issue:9 Volume:188 Page:2560-2575
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:

Takeda Ryojun¹²³^ORCID,Yamaguchi Tomomi¹⁴⁵^ORCID,Hayashi Shujiro⁶,Sano Shinichirou⁷,Kawame Hiroshi⁸⁹¹⁰,Kanki Sachiko¹¹,Taketani Takeshi¹²,Yoshimura Hidekane¹³,Nakamura Yukio¹⁴,Kosho Tomoki¹²⁴⁵¹⁵^ORCID

Affiliation:

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

2. Division of Medical Genetics Nagano Children's Hospital Azumino Japan

3. Life Science Research Center Nagano Children's Hospital Azumino Japan

4. Center for Medical Genetics Shinshu University Hospital Matsumoto Japan

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

6. Department of Dermatology Dokkyo Medical University Japan

7. Division of Endocrinology and Metabolism Shizuoka Children's Hospital Shizuoka Japan

8. Division of Genomic Medicine Support and Genetic Counseling, Tohoku Medical Megabank Organization Tohoku University Sendai Japan

9. Miyagi Children's Hospital Sendai Japan

10. Division of Clinical Genetics Jikei University Hospital Tokyo Japan

11. Department of Thoracic and Cardiovascular Surgery Osaka Medical and Pharmaceutical University Osaka Japan

12. Department of Pediatrics Shimane University Faculty of Medicine Izumo Japan

13. Department of Otorhinolaryngology Shinshu University School of Medicine Matsumoto Japan

14. Department of Orthopaedic Surgery Shinshu University School of Medicine Matsumoto Japan

15. 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.62887

Reference37 articles.

1. Classical Ehlers‐Danlos syndrome with a propensity to arterial events: A new report on a French family with a COL1A1 p.(Arg312Cys) variant

2. Celiprolol Treatment in Patients with Vascular Ehlers-Danlos Syndrome

3. Aortic aneurysm/dissection and osteogenesis imperfecta: Four new families and review of the literature

4. The Ehlers-Danlos syndromes, rare types

5. Unruptured intracranial aneurysms: epidemiology, natural history, management options, and familial screening

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