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

ConclusionThis report enhances our knowledge of genetic and phenotypic characteristics of X-linked fetal hydrocephalus, providing a new genetic basis for prenatal diagnosis and pre-implantation prenatal diagnosis.

Source: Molecular Genetics & Genomic Medicine - July 25, 2023 Category: Genetics & Stem Cells Authors: Tiantian He, Qiang Yao, Bocheng Xu, Mei Yang, Jieni Jiang, Qingqing Xiang, Like Xiao, Shanling Liu, He Wang, Xuemei Zhang Tags: CLINICAL REPORT Source Type: research