Retinitis pigmentosa and molar tooth sign caused by novel AHI1 compound heterozygote pathogenic variants

• Main Authors: Chunyan Chen (Author), Jiong Gao (Author), Qing Lv (Author), Chen Xu (Author), Yu Xia (Author), Ailian Du (Author)
• Format: Book
• Published: BMC, 2021-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Joubert syndrome (JS) is a group of rare congenital disorders characterized by cerebellar vermis dysplasia, developmental delay, and retina dysfunctions. Herein, we reported a Chinese patient carrying a new variant in the AHI1 gene with mild JS, and the 3D structure of the affect...