Genotype-phenotype correlations and long-term efficacy of pamidronate therapy in patients with osteogenesis imperfecta

• Main Authors: Yunha Choi (Author), Soojin Hwang (Author), Gu-Hwan Kim (Author), Beom Hee Lee (Author), Han-Wook Yoo (Author), Jin-Ho Choi (Author)
• Format: Book
• Published: Korean Society of Pediatric Endocrinology, 2022-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Purpose Osteogenesis imperfecta (OI) is a rare bone fragility disorder caused by defects in type 1 collagen biosynthesis. This study investigated the genotype-phenotype correlations and the efficacy of pamidronate therapy in patients with OI in a single academic center. Methods This study included 2...