Splicing mutations in AMELX and ENAM cause amelogenesis imperfecta

• Main Authors: Zhenwei Zhang (Author), Xiaoying Zou (Author), Lin Feng (Author), Yu Huang (Author), Feng Chen (Author), Kai Sun (Author), Yilin Song (Author), Ping Lv (Author), Xuejun Gao (Author), Yanmei Dong (Author), Hua Tian (Author)
• Format: Book
• Published: BMC, 2023-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Amelogenesis imperfecta (AI) is a developmental enamel defect affecting the structure of enamel, esthetic appearance, and the tooth masticatory function. Gene mutations are reported to be relevant to AI. However, the mechanism underlying AI caused by different mutations is still...