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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...
Autores principales: | Bałdyga, Natalia, Oziębło, Dominika, Gan, Nina, Furmanek, Mariusz, Leja, Marcin L., Skarżyński, Henryk, Ołdak, Monika |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
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 |
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