article_metadata: Huiping Wang Wensha Nie Chunxia Wang Zuohua Wang Yuxia Zheng
article_metadata: 10.1515/biol-2022-0542
article_metadata: Open Life Sci
article_metadata: 2023 Feb 1;18(1):20220542.
article_metadata: cplane1 joubert syndrome ataxia molar tooth sign oculomotor apraxia
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/36789003/
article_metadata: Case Reports
article_metadata: PMC9896164
article_metadata: 36789003
article_metadata: Novel CPLANE1 c.8948dupT (p.P2984Tfs*7) variant in a child patient with Joubert syndrome
article_metadata: 2023