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

Ryojun Takeda 1 2 3, Tomomi Yamaguchi 1 4 5, Shujiro Hayashi 6, Shinichirou Sano 7, Hiroshi Kawame 8 9 10, Sachiko Kanki 11, Takeshi Taketani 12, Hidekane Yoshimura 13, Yukio Nakamura 14, Tomoki Kosho 1 2 4 5 15 1Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan. 2Division of Medical Genetics, Nagano Children's Hospital, Azumino, Japan. 3Life Science Research Center, Nagano Children's Hospital, Azumino, Japan. 4Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan. 5Division of Clinical Sequencing, Shinshu University School of Medicine, Matsumoto, Japan. 6Department of Dermatology, Dokkyo Medical University, Japan. 7Division of Endocrinology and Metabolism, Shizuoka Children's Hospital, Shizuoka, Japan. 8Division of Genomic Medicine Support and Genetic Counseling, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan. 9Miyagi Children's Hospital, Sendai, Japan. 10Division of Clinical Genetics, Jikei University Hospital, Tokyo, Japan. 11Department of Thoracic and Cardiovascular Surgery, Osaka Medical and Pharmaceutical University, Osaka, Japan. 12Department of Pediatrics, Shimane University Faculty of Medicine, Izumo, Japan. 13Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan. 14Department of Orthopaedic Surgery, Shinshu University School of Medicine, Matsumoto, Japan. 15Research Center for Supports to Advanced Science, Shinshu University, Matsumoto, Japan.

Taketani, Takeshi