Review
Open access
Jan 2026
Genotype and Phenotype of 198 Korean Patients With Nonlethal Osteogenesis Imperfecta: A Retrospective Cohort Study
The genotype–phenotype analysis confirmed the phenotypic severity of GS, particularly for variants closer to the C‐terminus of COL1A1, consistent with previous studies, and the identification of 44 novel variants expands the variant spectrum of OI.
Junpyo Lee, H. Lee, Jung-Min Ko et al.
· Human Mutation · 0 citations