Hydrocephalus and Hirschsprung's disease in a patient with a mutation of L1CAM.

doi:10.1136/jmg.34.8.670

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Article

Hydrocephalus and Hirschsprung's disease in a patient with a mutation of L1CAM.

Journal of medical genetics - 1 Aug 1997

Okamoto N, Wada Y, Goto M

Abstract excerpt

Abnormalities of the L1CAM gene, a member of the immunoglobulin gene superfamily of neural cell adhesion molecules, are associated with X linked hydrocephalus and some allelic disorders. We describe a patient with X linked hydrocephalus and Hirschsprung's disease (HSCR) with a novel mutation in t...

Topics

Alleles
Antigens, Surface
Calcium-Binding Proteins
Gene Deletion
Genetic Linkage
Hirschsprung Disease
Humans
Hydrocephalus
Leukocyte L1 Antigen Complex
Mutation
Neural Cell Adhesion Molecules
Sequence Analysis, DNA
X Chromosome

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