Carregant...

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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Autors principals: Bosch, Annet M, Stroek, Kevin, Abeling, Nico G, Waterham, Hans R, IJlst, Lodewijk, Wanders, Ronald JA
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2012
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3517535/
https://ncbi.nlm.nih.gov/pubmed/23107375
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-7-83
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!