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Article

L1CAM mutations in three fetuses diagnosed by medical exome sequencing.

Taiwanese journal of obstetrics & gynecology - 1 May 2020

Li Ying-Ting, Chen Jing-Si, Jian Wei, He Yi-Duo, Li Nan, Xie Yi-Nong, Wang Jing, Zhang Victor Wei, Huang Wei-Ran, Jiang Fu-Man, Ye Xiao-Qing, Chen Dun-Jin, Chen Min

Abstract excerpt

OBJECTIVE: The L1 cell adhesion molecule (L1CAM) gene, encodes the L1 cell adhesion molecule, is involved in the central nervous system development. Its mutations result in L1 syndrome which is associated with brain malformation and nervous developmental delay. CASE REPORT: We presented three fetuses with hydrocephalus and agenesis of the corpus callosum detected by ultrasound, followed by medical exome...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32416898
DOI: 10.1016/j.tjog.2020.03.022

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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