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

Tiantian He,Qiang Yao,Bocheng Xu,Mei Yang, Jieni Jiang, Qingqing Xiang,Like Xiao,Shanling Liu,He Wang,Xuemei Zhang

Molecular genetics & genomic medicine（2023）

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摘要

This 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.

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关键词

fetal hydrocephalus,novel splicing variation

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