A novel mutation of the RPGRIP1L gene in a Chinese boy with Joubert syndrome with oculorenal involvement

• Main Authors: Qian Li (Author), Qianying Liu (Author), Suwen Liu (Author), Lichun Yu (Author), Zhenle Yang (Author), Cong Wang (Author), Jing Wang (Author), Shuzhen Sun (Author)
• Format: Book
• Published: BMC, 2023-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Joubert syndrome (JS) is a rare genetically heterogeneous primary ciliopathy characterized by a pathognomonic cerebellar and brainstem malformation, the "molar tooth sign", and variable organ involvement (such as eye, kidney, liver, and skeleton). Here, we present a cas...