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

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 va...

Source: BMC Medical Genomics - October 9, 2021 Category: Genetics & Stem Cells Authors: Chunyan Chen, Jiong Gao, Qing Lv, Chen Xu, Yu Xia and Ailian Du Tags: Case report Source Type: research