Family-based reclassification of COL1A1 NM_000088.4:c.4123G > A (p.Ala1375Thr) in a four-generation pedigree with osteogenesis imperfecta
Authors:
- Shurong HongSHShurong Hong
- Yajun SuYSYajun Su
- Junyan WuJWJunyan Wu
- Yucong XuYXYucong Xu
- Yuegui WangYWYuegui Wang
- Xiaohong LaiXLXiaohong Lai
- Haolin ShenHSHaolin Shen
Open Access
- 13 November 2026
- journal article
- Published by Springer Nature in BMC Medical Genomics
Abstract
No abstract availableFunding Information
- Zhangzhou Municipal People''s Government (Zhangzhou ‘Double Innovation Star’ Fund Project)