Article
A new mutation of the L1CAM gene in an X-linked hydrocephalus family.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery - 1 Dec 1996
Izumoto S, Yamasaki M, Arita N, Hiraga S, Ohnishi T, Fujitani K, Sakoda S, Hayakawa T
Abstract excerpt
X-linked hydrocephalus is a genetic form of hydrocephalus that frequently occurs in females. It is characterized by ventricular dilatation, mental retardation, deformity of the thumb and spastic paraparesis. Recently, 23 different mutations of the gene for the neural cell adhesion molecule, L1CAM...
Topics
- Adolescent
- Amino Acid Sequence
- Base Sequence
- Child
- Child, Preschool
- DNA Mutational Analysis
- Humans
- Hydrocephalus
- Infant
- Infant, Newborn
- Leukocyte L1 Antigen Complex
- Male
- Neural Cell Adhesion Molecules
- Pedigree
- Phenotype
- Polymerase Chain Reaction
- Radiography
- Sex Chromosome Aberrations