A novel splicing variation in L1CAM is responsible for recurrent fetal hydrocephalus

BACKGROUND: The L1 cell adhesion molecule (L1CAM, OMIM 308840) gene is primarily expressed in the nervous system and encodes the L1 adhesion molecule protein. Variations in L1CAM cause a wide spectrum of X‐linked neurological disorders summarized as the L1 syndrome. METHODS: We report a 29‐year‐old...

Descripción completa

Detalles Bibliográficos
Autores principales: He, Tiantian, Yao, Qiang, Xu, Bocheng, Yang, Mei, Jiang, Jieni, Xiang, Qingqing, Xiao, Like, Liu, Shanling, Wang, He, Zhang, Xuemei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10655515/
https://www.ncbi.nlm.nih.gov/pubmed/37489051
http://dx.doi.org/10.1002/mgg3.2253

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10655515/
https://www.ncbi.nlm.nih.gov/pubmed/37489051
http://dx.doi.org/10.1002/mgg3.2253

Ejemplares similares