A novel variant in FOXC1 associated with atypical Axenfeld-Rieger syndrome

• Main Authors: Rui Wang (Author), Wei-Qian Wang (Author), Xiao-Qin Li (Author), Juan Zhao (Author), Kun Yang (Author), Yong Feng (Author), Meng-Meng Guo (Author), Min Liu (Author), Xing Liu (Author), Xi Wang (Author), Yong-Yi Yuan (Author), Xue Gao (Author), Jin-Cao Xu (Author)
• Format: Book
• Published: BMC, 2021-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Mutations in the Forkhead Box C1 (FOXC1) are known to cause autosomal dominant hereditary Axenfeld-Rieger syndrome, which is a genetic disorder characterized by ocular and systemic features including glaucoma, variable dental defects, craniofacial dysmorphism and hearing loss. Due to late-o...