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