A Rare Case of Warrdenburg Syndrome with Unilateral Hearing Loss Caused by Nonsense Variant c.772C>T (p.Arg259*) in the MITF Gene in Yakut Patient from the Eastern Siberia (Sakha Republic, Russia)
Articles » Scholarly, peer reviewed
Author/Creator
Nikolay A. Barashkov
Georgii P. Romanov
Uigulaana P. Borisova
Aisen V. Solovyev
Vera G. Pshennikova ... [et al.]
International Journal of Circumpolar Health, vol. 78, no. 1, 2019
Description
Study confirm the association of pathogenic variants in the MITF gene with WS type 2 and expanded data on the variability of audiological features of the WS.