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

Exploring the Impact of Genetics in a Large Cohort of Moebius Patients by Trio Whole Exome Sequencing.

Genes - 23 Jul 2024

Moresco Giada, Bedeschi Maria Francesca, Venturin Marco, Villa Roberta, Costanza Jole, Mauri Alessia, Santaniello Carlo, Picciolini Odoardo, Messina Laura, Triulzi Fabio, Miozzo Monica Rosa, Rondinone Ornella, Fontana Laura

Abstract excerpt

Moebius syndrome (MBS) is a rare congenital disorder characterized by non-progressive facial palsy and ocular abduction paralysis. Most cases are sporadic, but also rare familial cases with autosomal dominant transmission and incomplete penetrance/variable expressivity have been described. The genetic etiology of MBS is still unclear: de novo pathogenic variants in REV3L and PLXND1 are reported in only a minority...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Child

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

Share to Child, Preschool

Share to Cohort Studies

Share to Exome Sequencing

Share to Genetic Predisposition to Disease

Share to Infant

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 39202332
DOI: 10.3390/genes15080971
PMCID: PMC11353404

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

Exploring the Impact of Genetics in a Large Cohort of Moebius Patients by Trio Whole Exome Sequencing.PMID 39202332Read ↗

An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation.Semantic proximity Read ↗

The impact of exome sequencing on the diagnostic yield of muscular dystrophies in consanguineous families.Semantic proximity Read ↗

Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy.Semantic proximity Read ↗

Novel pathogenic variants and genes for myopathies identified by whole exome sequencingSemantic proximity Read ↗

Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders.Semantic proximity Read ↗

Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies.Semantic proximity Read ↗

Triple diagnosis of Wiedemann-Steiner, Waardenburg and DLG3-related intellectual disability association found by WES: A case report.Semantic proximity Read ↗

Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns.Semantic proximity Read ↗

A novel intronic variant in ROBO3 associated with horizontal gaze palsy with progressive scoliosis: case report and literature review.Semantic proximity Read ↗

Two novel pathogenic variants in MED13L: one familial and one isolated case.Semantic proximity Read ↗

Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing.Semantic proximity Read ↗

De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies.Semantic proximity Read ↗

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