Article
Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene.
Human mutation - 1 Jan 2001
Weller S, Gärtner J
Abstract excerpt
L1 disease is a group of overlapping clinical phenotypes including X-linked hydrocephalus, MASA syndrome, spastic paraparesis type 1, and X-linked agenesis of corpus callosum. The patients are characterized by hydrocephalus, agenesis or hypoplasia of corpus callosum and corticospinal tracts, mental retardation, spastic paraplegia, and adducted thumbs. The responsible gene, L1CAM, encodes the L1 protein which is a...
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