Article
The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule.
American journal of medical genetics - 12 Jul 1996
Fransen E, Vits L, Van Camp G, Willems P J
Abstract excerpt
Mutations in the gene encoding the neuronal cell adhesion molecule L1 are responsible for several syndromes with clinical overlap, including X-linked hydrocephalus (XLH, HSAS), MASA (mental retardation, aphasias, shuffling gait, adducted thumbs) syndrome, complicated X-linked spastic paraplegia (SP 1), X-linked mental retardation-clasped thumb (MR-CT) syndrome, and some forms of X-linked agenesis of the corpus...
Topics
- Cell Adhesion Molecules, Neuronal
- Genotype
- Humans
- Hydrocephalus
- Intellectual Disability
- Leukocyte L1 Antigen Complex
- Membrane Glycoproteins
- Mutation
- Phenotype
- Syndrome