Enlarged vestibular aqueduct and Mondini Malformation: audiological, clinical, radiologic and genetic features

PURPOSE: When referring to enlarged vestibular aqueduct (EVA) we should differentiate between nonsyndromic enlarged vestibular aqueduct (NSEVA) and Pendred Syndrome (PDS), a disease continuum associated with pathogenic sequence variants of Pendrin’s Gene (SLC26A4) in about half of the cases. The stu...

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Detalles Bibliográficos
Autores principales: Forli, F., Lazzerini, F., Auletta, G., Bruschini, L., Berrettini, S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2020
Materias:
Otology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8165072/
https://www.ncbi.nlm.nih.gov/pubmed/32910226
http://dx.doi.org/10.1007/s00405-020-06333-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8165072/
https://www.ncbi.nlm.nih.gov/pubmed/32910226
http://dx.doi.org/10.1007/s00405-020-06333-9

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