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

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

Molecular genetics & genomic medicine - 1 Sept 2022

Gao Shanshan, Zhao Xuechao, Zhao Ganye, Dai Peng, Kong Xiangdong

Abstract excerpt

BACKGROUND: The molecular mutations of the L1CAM gene and the imaging appearances of four fetuses with L1 syndrome from three independent Chinese families with a history of hydrocephalus were reported in this study. Two of the three are novel L1CAM variants. METHODS: Results of clinical and imaging examinations of three Chinese families were collected. Fetal samples were collected by puncture, genomic DNA was...

Read the complete abstract on PubMed

Topics

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

Share to China
Share to Codon, Nonsense
Share to Genetic Diseases, X-Linked

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hydrocephalus

Share to Intellectual Disability

Share to Neural Cell Adhesion Molecule L1

Share to Pregnancy

Share to Spastic Paraplegia, Hereditary

Source

Open in PubMed Open full text

Identifiers

PMID: 35791503
DOI: 10.1002/mgg3.2002
PMCID: PMC9482388

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Analysis of L1CAM gene mutation and imaging appearance in three Chinese families with L1 syndrome: Three case reports.PMID 35791503Read ↗

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 ↗

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

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

L1CAM mutations in three fetuses diagnosed by medical exome sequencing.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 ↗

L1CAM variants cause two distinct imaging phenotypes on fetal MRI.Semantic proximity Read ↗

Three cases with L1 syndrome and two novel mutations in the L1CAM gene.Semantic proximity Read ↗

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

An updated and upgraded L1CAM mutation database.Semantic proximity Read ↗

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

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