Article
Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease?
American journal of medical genetics - 15 Feb 2002
Parisi Melissa A, Kapur Raj P, Neilson Ian, Hofstra Robert M W, Holloway Lynda W, Michaelis Ron C, Leppig Kathleen A
Abstract excerpt
Congenital hydrocephalus associated with aqueductal stenosis and/or agenesis of the corpus callosum has been described in newborn males with mutations in L1CAM, a gene that encodes a neural cell adhesion molecule. These males usually have severe mental retardation and may have spastic paraplegia and adducted thumbs. In contrast, Hirschsprung disease, or absence of ganglion cells in the distal gut, has rarely been...
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