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

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

Abstract 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‐ye...

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Bibliographic Details
Main Authors: Tiantian He, Qiang Yao, Bocheng Xu, Mei Yang, Jieni Jiang, Qingqing Xiang, Like Xiao, Shanling Liu, He Wang, Xuemei Zhang
Format: Article
Language:English
Published: Wiley 2023-11-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
fetal hydrocephalus
L1CAM
prenatal diagnosis
splicing variation
Online Access:https://doi.org/10.1002/mgg3.2253

Internet

https://doi.org/10.1002/mgg3.2253

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