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  • Title: A novel mutation in L1CAM gene in a Japanese patient with X-linked hydrocephalus.
    Author: Okamoto N, Wada Y, Kawabata H, Ishikiriyama S, Takahashi S.
    Journal: Jpn J Hum Genet; 1996 Dec; 41(4):431-7. PubMed ID: 9088116.
    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.
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