Article
Molecular mechanisms and neuroimaging criteria for severe L1 syndrome with X-linked hydrocephalus.
Journal of neurosurgery - 1 Nov 2006
Kanemura Yonehiro, Okamoto Nobuhiko, Sakamoto Hiroaki, Shofuda Tomoko, Kamiguchi Hiroyuki, Yamasaki Mami
Abstract excerpt
OBJECT: Mutations in the gene that codes for the human neural cell adhesion molecule L1 (L1CAM), are known to cause a wide variety of anomalies, now understood as phenotypic expressions of L1 syndrome. The correlations between genotype and phenotype, however, are not fully established. The authors report the results of a nationwide investigation of L1CAM gene mutations that was performed to improve the...
Topics
- Base Sequence
- Brain
- Genetic Diseases, X-Linked
- Humans
- Hydrocephalus
- Infant, Newborn
- Intellectual Disability
- Magnetic Resonance Imaging
- Male
- Mutation
- Neural Cell Adhesion Molecule L1
- Pedigree
- Severity of Illness Index
- Syndrome