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

A Commentary on 'Four novel C20ORF54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.'.

Journal of human genetics - 1 Sept 2012

Houlden Henry

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Hearing Loss, Sensorineural
Share to Membrane Transport Proteins
Share to Mutation

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 22786578
DOI: 10.1038/jhg.2012.88

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Commentary on 'Four novel C20ORF54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.'.PMID 22786578Read ↗

Exome sequencing in Brown-Vialetto-van Laere syndrome.Semantic proximity Read ↗

Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.Semantic proximity Read ↗

Update of Emerinopathies’ clinical-genetic spectrum: the French network experienceSemantic proximity Read ↗

Non-lethal Raine Syndrome in a Middle-Aged Woman Caused by a Novel FAM20C MutationSemantic proximity Read ↗

Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54.Semantic proximity Read ↗

Two females with distinct de novo missense pathogenic variants in MED12 and vastly differing phenotypes.Semantic proximity Read ↗

Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 PatientsSemantic proximity Read ↗

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.Semantic proximity Read ↗

Brown-Vialetto-Van Laere syndrome: clinical and neuroradiological findings of a genetically proven patient.Semantic proximity Read ↗

Brown-Vialetto-Van Laere syndrome and Fazio-Londe syndrome: A novel mutation and in silico analyses.Semantic proximity Read ↗

Adult onset Brown-Vialetto-Van Laere syndrome with opsoclonus and a novel heterozygous mutation: a case report.Semantic proximity Read ↗

SLC20A2 mutation manifesting as very late-onset orofacial dyskinesia.Semantic proximity Read ↗

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