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) › Research Explorer

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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)

Research output: Contribution to journal › Article › peer-review

DOI

https://doi.org/10.1080/22423982.2019.1630219
Final published version

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

Original language	English
Article number	1630219
Pages (from-to)	1630219
Journal	International Journal of Circumpolar Health
Volume	78
Issue number	1
DOIs	https://doi.org/10.1080/22423982.2019.1630219
Publication status	Published - 1 Jan 2019

Research areas

Eastern Siberia, MITF, Russia, Sakha Republic, Waardenburg syndrome

OECD FOS+WOS

State classification of scientific and technological information

76 MEDICINE AND HEALTH CARE

ID: 20641706