Browsing NTNU Open by Author "Teryutin, Fedor M."
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A rare case of Waardenburg 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)
Barashkov, Nikolay A.; Romanov, Georgii P.; Borisova, Uigulaana P.; Solovyev, Aisen V.; Pshennikova, Vera G.; Teryutin, Fedor M.; Bondar, Alexander A.; Morozov, Igor V.; Khusnutdinova, Elza K.; Posukh, Olga L.; Burtseva, Tatiana E.; Odland, Jon Øyvind; Fedorova, Sardana A. (Peer reviewed; Journal article, 2019)Waardenburg syndrome (WS) is an orphan genetic disease with autosomal dominant pattern of inheritance characterised by varying degrees of hearing loss accompanied by skin, hair and iris pigmentation abnormalities. Four ...