Novel CPLANE1 c.8948dupT (p.P2984Tfs*7) variant in a child patient with Joubert syndrome

Joubert syndrome (JBTS) is a class of heterogeneous ciliopathy genetically associated with CPLANE1 mutations. The characteristics of clinical phenotypes and CPLANE1 variants were analyzed in a 2-month-old patient. A 2-month-old patient with JBTS was diagnosed after clinical evaluation including fami...

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Detalles Bibliográficos
Autores principales: Wang, Huiping, Nie, Wensha, Wang, Chunxia, Wang, Zuohua, Zheng, Yuxia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: De Gruyter 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9896164/
https://www.ncbi.nlm.nih.gov/pubmed/36789003
http://dx.doi.org/10.1515/biol-2022-0542

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9896164/
https://www.ncbi.nlm.nih.gov/pubmed/36789003
http://dx.doi.org/10.1515/biol-2022-0542

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