Clinical and genetic characteristics of 36 children with Joubert syndrome

• Main Authors: Yan Dong (Author), Ke Zhang (Author), He Yao (Author), Tianming Jia (Author), Jun Wang (Author), Dengna Zhu (Author), Falin Xu (Author), Meiying Cheng (Author), Shichao Zhao (Author), Xiaoyi Shi (Author)
• Format: Book
• Published: Frontiers Media S.A., 2023-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Background and aimsJoubert syndrome (JBTS, OMIM # 213300) is a group of ciliopathies characterized by mid-hindbrain malformation, developmental delay, hypotonia, oculomotor apraxia, and breathing abnormalities. Molar tooth sign in brain imaging is the hallmark for diagnosing JBTS. It is a clinically...