Clinical heterogeneity and intrafamilial variability of Joubert syndrome in two siblings with CPLANE1 variants

BACKGROUND: Joubert syndrome (JBTS) is a rare genetic disorder that is characterized by midbrain‐hindbrain malformations. Multiple variants in genes that affect ciliary function contribute to the genetic and clinical heterogeneity of JBTS and its subtypes. However, the correlation between genotype a...

Descripción completa

Detalles Bibliográficos
Autores principales: Zhang, Xiujuan, Shen, Yue, Li, Ping, Cai, Ruikun, Lu, Chao, Li, Qian, Chen, Cuixia, Yu, Yufei, Cheng, Tingting, Wang, Xian, Luo, Minna, Cao, Muqing, Cao, Zongfu, Ma, Xu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8222854/
https://www.ncbi.nlm.nih.gov/pubmed/33822487
http://dx.doi.org/10.1002/mgg3.1682

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8222854/
https://www.ncbi.nlm.nih.gov/pubmed/33822487
http://dx.doi.org/10.1002/mgg3.1682

Ejemplares similares