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Article

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

Molecular genetics & genomic medicine - 1 Nov 2023

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

Abstract excerpt

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 pregnant woman who experienced multiple adverse pregnancy outcomes due to recurrent fetal hydrocephalus with an...

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Identifiers

PMID: 37489051
DOI: 10.1002/mgg3.2253
PMCID: PMC10655515

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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