Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Hydrocephalus and Hirschsprung's disease in a patient with a mutation of L1CAM.

Journal of medical genetics - 1 Aug 1997

Okamoto N, Wada Y, Goto M

Abstract excerpt

Abnormalities of the L1CAM gene, a member of the immunoglobulin gene superfamily of neural cell adhesion molecules, are associated with X linked hydrocephalus and some allelic disorders. We describe a patient with X linked hydrocephalus and Hirschsprung's disease (HSCR) with a novel mutation in the L1CAM gene. This is the first report of HSCR with a mutant neural cell adhesion molecule. Although the disease...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alleles
Share to Antigens, Surface
Share to Calcium-Binding Proteins

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Gene Deletion

Share to Genetic Linkage

Share to Mutation

Share to Sequence Analysis, DNA

Share to X Chromosome

Source

Open in PubMed Open full text

Identifiers

PMID: 9279760
DOI: 10.1136/jmg.34.8.670
PMCID: PMC1051030

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Hydrocephalus and Hirschsprung's disease in a patient with a mutation of L1CAM.PMID 9279760Read ↗

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

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

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

Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease?Semantic proximity Read ↗

A novel L1CAM mutation with L1 spectrum disorders.Semantic proximity Read ↗

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

Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene.Semantic proximity Read ↗

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

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

Molecular mechanisms and neuroimaging criteria for severe L1 syndrome with X-linked hydrocephalus.Semantic proximity Read ↗

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

Novel mutations in the L1CAM gene support the complexity of L1 syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.