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Article

L1CAM mutation in a Japanese family with X-linked hydrocephalus: a study for genetic counseling.

Brain & development - 1 Dec 1997

Takahashi S, Makita Y, Okamoto N, Miyamoto A, Oki J

Abstract excerpt

Mutations in the gene encoding neural cell adhesion molecule L1 (L1CAM) are involved in X-linked hydrocephalus (HSAS, hydrocephalus due to stenosis of the aqueduct of Sylvius), MASA syndrome (mental retardation, aphasia, shuffling gait, and adducted thumbs), and spastic paraplegia type 1. We examined the L1CAM mutation in a Japanese family with HSAS for the purpose of DNA-based genetic counseling. The proband was...

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Source

Identifiers

PMID: 9440802
DOI: 10.1016/s0387-7604(97)00079-x

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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