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L1CAMmutations in three fetuses diagnosed by medical exome sequencing

Authors :
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
Source :
Taiwanese Journal of Obstetrics and Gynecology; May 2020, Vol. 59 Issue: 3 p451-455, 5p
Publication Year :
2020

Abstract

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.

Details

Language :
English
ISSN :
10284559
Volume :
59
Issue :
3
Database :
Supplemental Index
Journal :
Taiwanese Journal of Obstetrics and Gynecology
Publication Type :
Periodical
Accession number :
ejs53237090
Full Text :
https://doi.org/10.1016/j.tjog.2020.03.022