Novel CPLANE1 c.8948dupT (p.P2984Tfs*7) variant in a child patient with Joubert syndrome
H Wang, W Nie, C Wang, Z Wang, Y Zheng - Open Life Sciences, 2023 - degruyter.com
Joubert syndrome (JBTS) is a class of heterogeneous ciliopathy genetically associated with
CPLANE1 mutations. The characteristics of clinical phenotypes and CPLANE1 variants were …
CPLANE1 mutations. The characteristics of clinical phenotypes and CPLANE1 variants were …