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L1CAMmutations in three fetuses diagnosed by medical exome sequencing
- 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