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

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

Congenital anomalies - 1 Nov 2014

Serikawa Takehiro, Nishiyama Kenichi, Tohyama Jun, Tazawa Ryushi, Goto Kiyoe, Kuriyama Yoko, Haino Kazufumi, Kanemura Yonehiro, Yamasaki Mami, Nakata Koh, Takakuwa Koichi, Enomoto Takayuki

Abstract excerpt

We present a case of a patient whose L1CAM gene in X-chromosome has a C924T transition. Her first son's ventriculomegaly was prenatally detected. A mature infant was born, his head circumference was large, and thumbs were bilaterally adducted. X-linked hydrocephalus (XLH) was suspected. The DNA examination revealed that both her and boy's LICAM gene had a C924T transition. She became pregnant 5 years later and...

Read the complete abstract on PubMed

Topics

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

Share to Genetic Diseases, X-Linked
Share to Hydrocephalus

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

Share to Infant

Share to Neural Cell Adhesion Molecule L1

Share to Pathology, Molecular

Share to Pedigree

Share to Pregnancy

Share to Prenatal Diagnosis

Source

Identifiers

PMID: 25039760
DOI: 10.1111/cga.12069

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

Prenatal molecular diagnosis of X-linked hydrocephalus via a silent C924T mutation in the L1CAM gene.PMID 25039760Read ↗

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

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

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

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

Analysis of L1CAM gene mutation and imaging appearance in three Chinese families with L1 syndrome: Three case reports.Semantic proximity Read ↗

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

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

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

Comprehensive bioinformatics analysis of <i>L1CAM</i> gene revealed Novel Pathological mutations associated with L1 syndromeSemantic proximity Read ↗

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

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

Molecular Biology of Pediatric Hydrocephalus and Hydrocephalus-related Diseases.Semantic proximity Read ↗

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