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Article

A novel mutation in L1CAM gene in a Japanese patient with X-linked hydrocephalus.

The Japanese journal of human genetics - 1 Dec 1996

Okamoto N, Wada Y, Kawabata H, Ishikiriyama S, Takahashi S

Abstract excerpt

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...

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Identifiers

PMID: 9088116
DOI: 10.1007/BF01876336

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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