Article
Gene analysis of L1 neural cell adhesion molecule in prenatal diagnosis of hydrocephalus.
Lancet (London, England) - 21 Jan 1995
Jouet M, Kenwrick S
Abstract excerpt
X-linked hydrocephalus is the most common form of inherited hydrocephalus, and is associated with severe neurological deficits and premature death. We have shown that mutations in the gene encoding L1 neural cell adhesion molecule result in X-linked hydrocephalus, which enables improved prenatal diagnosis and investigation of the role of this molecule in sporadic cases. Here we report two pedigrees with...
Topics
- Cell Adhesion Molecules, Neuronal
- Female
- Fetal Diseases
- Humans
- Hydrocephalus
- Infant, Newborn
- Leukocyte L1 Antigen Complex
- Male
- Mutation
- Pregnancy
- Prenatal Diagnosis