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Article

A new mutation of the L1CAM gene in an X-linked hydrocephalus family.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery - 1 Dec 1996

Izumoto S, Yamasaki M, Arita N, Hiraga S, Ohnishi T, Fujitani K, Sakoda S, Hayakawa T

Abstract excerpt

X-linked hydrocephalus is a genetic form of hydrocephalus that frequently occurs in females. It is characterized by ventricular dilatation, mental retardation, deformity of the thumb and spastic paraparesis. Recently, 23 different mutations of the gene for the neural cell adhesion molecule, L1CAM, located at chromosome region Xq28, have been reported, 16 of which were detected in families with X-linked...

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PMID: 9118141
DOI: 10.1007/BF00261591

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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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A new mutation of the L1CAM gene in an X-linked hydrocephalus family.PMID 9118141Read ↗

Five novel mutations in the L1CAM gene in families with X linked hydrocephalus.Semantic proximity Read ↗

A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS).Semantic proximity Read ↗

[A family with X-linked hydrocephalus resulting from mutations in the neural cell adhesion molecule L1].Semantic proximity Read ↗

A novel nonsense mutation in the L1CAM gene responsible for X-linked congenital hydrocephalus.Semantic proximity Read ↗

A novel mutation in L1CAM gene in a Japanese patient with X-linked hydrocephalus.Semantic proximity Read ↗

Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing.Semantic proximity Read ↗

New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome.Semantic proximity Read ↗

X-Linked Hydrocephalus with New L1CAM Pathogenic Variants: Review of the Most Prevalent Molecular and Phenotypic FeaturesSemantic proximity Read ↗

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

Prenatal molecular diagnosis of X-linked hydrocephalus via a silent C924T mutation in the L1CAM gene.Semantic proximity Read ↗

Prenatal molecular diagnosis of a severe type of L1 syndrome (X-linked hydrocephalus).Semantic proximity Read ↗

Hydrocephalus and Hirschsprung's disease in a patient with a mutation of L1CAM.Semantic proximity Read ↗

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