Article
Expanding the phenotypic spectrum of L1CAM-associated disease.
Clinical genetics - 1 May 2006
Basel-Vanagaite L, Straussberg R, Friez M J, Inbar D, Korenreich L, Shohat M, Schwartz C E
Abstract excerpt
Mutations in the L1CAM gene cause neurological abnormalities of variable severity, including congenital hydrocephalus, agenesis of the corpus callosum, spastic paraplegia, bilaterally adducted thumbs, aphasia, and mental retardation. Inter- and intrafamilial variability is a well-known feature of the L1CAM spectrum, and several patients have a combination of L1CAM mutations and Hirschsprung's disease (HSCR). We...
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