The Genetic Background of Hearing Loss in Patients with EVA and Cochlear Malformation

The most frequently observed congenital inner ear malformation is enlarged vestibular aqueduct (EVA). It is often accompanied with incomplete partition type 2 (IP2) of the cochlea and a dilated vestibule, which together constitute Mondini malformation. Pathogenic SLC26A4 variants are considered the...

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Detalles Bibliográficos
Autores principales: Bałdyga, Natalia, Oziębło, Dominika, Gan, Nina, Furmanek, Mariusz, Leja, Marcin L., Skarżyński, Henryk, Ołdak, Monika
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9957411/
https://www.ncbi.nlm.nih.gov/pubmed/36833263
http://dx.doi.org/10.3390/genes14020335

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9957411/
https://www.ncbi.nlm.nih.gov/pubmed/36833263
http://dx.doi.org/10.3390/genes14020335

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