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Article

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

American journal of human genetics - 12 Mar 2010

Green Peter, Wiseman Matthew, Crow Yanick J, Houlden Henry, Riphagen Shelley, Lin Jean-Pierre, Raymond F Lucy, Childs Anne-Marie, Sheridan Eamonn, Edwards Sian, Josifova Dragana J

Abstract excerpt

Brown-Vialetto-Van Laere syndrome is a rare neurological disorder with a variable age at onset and clinical course. The key features are progressive ponto-bulbar palsy and bilateral sensorineural deafness. A complex neurological phenotype with a mixed picture of upper and lower motor neuron invol...

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Share to Chromosomes, Human, Pair 20
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 20206331
DOI: 10.1016/j.ajhg.2010.02.006
PMCID: PMC2833371

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20206331-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54.PMID 20206331Read ↗

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