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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Springer Berlin Heidelberg
2020
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| Materias: | |
| 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 |