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

• Auteurs principaux: Chunyan Chen (Auteur), Jiong Gao (Auteur), Qing Lv (Auteur), Chen Xu (Auteur), Yu Xia (Auteur), Ailian Du (Auteur)
• Format: Livre
• Publié: BMC, 2021-10-01T00:00:00Z.
• Sujets: article
• Accès en ligne: 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...