The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives

The Brown-Vialetto-Van Laere syndrome is a rare neurological disorder which may present at all ages with sensorineural deafness, bulbar palsy and respiratory compromise. Fazio-Londe syndrome is considered to be the same disease entity. Recently it was demonstrated that in some patients the disease i...

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Detalles Bibliográficos
Autores principales: Bosch, Annet M, Stroek, Kevin, Abeling, Nico G, Waterham, Hans R, IJlst, Lodewijk, Wanders, Ronald JA
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3517535/
https://www.ncbi.nlm.nih.gov/pubmed/23107375
http://dx.doi.org/10.1186/1750-1172-7-83

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3517535/
https://www.ncbi.nlm.nih.gov/pubmed/23107375
http://dx.doi.org/10.1186/1750-1172-7-83

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