Article
[Hearing loss due to mutations or lack of the gene coding protein stereocillin].
Vestnik otorinolaringologii - 1 Jan 2020
Markova T G, Alekseeva N N, Mironovich O L, Bliznets E A, Lalayants M R, Polyakov A V, Tavartkiladze G A
Abstract excerpt
OBJECTIVE: The description of a clinical picture and audiological features at the hearing loss caused by changes of a STRC gene, coding protein stereocillin (MIM: 606440). Mutations in the numerous genes responsible for the inner ear proteins are the reason for congenital sensorineural hearing loss. The main cause of congenital bilateral sensorineural hearing loss in the Russian Federation are mutations in GJB2...
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