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

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

Human mutation - 1 May 2004

Hübner Christian A, Utermann Barbara, Tinschert Sigrid, Krüger Gabriele, Ressler Bernadette, Steglich Cordula, Schinzel Albert, Gal Andreas

Abstract excerpt

L1 disease is a clinically heterogeneous X-chromosomal neurodevelopmental disorder that is frequently associated with mental retardation and congenital hydrocephalus in males. It is caused by mutations in L1CAM that encodes a multifunctional transmembrane neuronal cell adhesion molecule. We report our findings on 6 novel intronic L1CAM sequence variants (c.523+5G>A, c.1123+1G>A, c.1547-13delC, c.3323-17dupG,...

Read the complete abstract on PubMed

Topics

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

Share to DNA Mutational Analysis
Share to Genetic Diseases, X-Linked

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

Share to Hydrocephalus

Share to Infant

Share to Introns

Share to Neural Cell Adhesion Molecule L1

Share to Pedigree

Share to RNA Splicing

Source

Identifiers

PMID: 15108295
DOI: 10.1002/humu.9242

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

Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing.PMID 15108295Read ↗

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

A novel splicing variation in L1CAM is responsible for recurrent fetal hydrocephalus.Semantic proximity Read ↗

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

Nine novel L1 CAM mutations in families with X-linked hydrocephalus.Semantic proximity Read ↗

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

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

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

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

L1-associated diseases: clinical geneticists divide, molecular geneticists unite.Semantic proximity Read ↗

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