Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54

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 involvem...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: 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.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Elsevier 2010
विषय:
Report
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC2833371/
https://ncbi.nlm.nih.gov/pubmed/20206331
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.02.006
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