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)

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)

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 types of WS differing in phenotypic characteristics are now described. We perform...

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Bibliographic Details
Main Authors: Nikolay A. Barashkov, Georgii P. Romanov, Uigulaana P. Borisova, Aisen V. Solovyev, Vera G. Pshennikova, Fedor M. Teryutin, Alexander A. Bondar, Igor V. Morozov, Elza K. Khusnutdinova, Olga L. Posukh, Tatiana E. Burtseva, Jon Øyvind Odland, Sardana A. Fedorova
Format: Article
Language:English
Published: Taylor & Francis Group 2019-01-01
Series:International Journal of Circumpolar Health
Subjects:
waardenburg syndrome
mitf
sakha republic
eastern siberia
russia
Online Access:http://dx.doi.org/10.1080/22423982.2019.1630219

Internet

http://dx.doi.org/10.1080/22423982.2019.1630219

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