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A novel mutation in L1CAM gene in a Japanese patient with X-linked hydrocephalus
N Okamoto1, Y Wada, H Kawabata
1Department of Planning and Research, Osaka Medical Center, Japan.
The Japanese Journal of Human Genetics
|December 1, 1996
Abstract:
L1CAM is a member of the immunoglobulin gene superfamily of neural adhesion molecule. Abnormality of the L1CAM gene is associated with X-linked recessive form of congenital hydrocephalus (HSAS; hydrocephalus due to congenital stenosis of aqueduct of Sylvius) and some allelic disorders. Four new patients with congenital hydrocephalus consistent with the X-linked type were described. One of them had a novel mutation in the L1CAM gene.