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

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 <i>SLC26A4</i> variants...

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Bibliographic Details
Main Authors: Natalia Bałdyga, Dominika Oziębło, Nina Gan, Mariusz Furmanek, Marcin L. Leja, Henryk Skarżyński, Monika Ołdak
Format: Article
Language:English
Published: MDPI AG 2023-01-01
Series:Genes
Subjects:
hearing loss
inner ear malformation
enlarged vestibular aqueduct (EVA)
incomplete partition type 2 (IP2)
high-throughput sequencing
pathogenic variants
Online Access:https://www.mdpi.com/2073-4425/14/2/335

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https://www.mdpi.com/2073-4425/14/2/335

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