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)

Bibliographic Details
Published in:	International Journal of Circumpolar Health
Main Authors:	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.
Other Authors:	Ministry of Education and Science of the Russian Federation, NEFU, Russian Foundation for Basic Research
Format:	Article in Journal/Newspaper
Language:	English
Published:	Informa UK Limited 2019
Subjects:	Public Health, Environmental and Occupational Health General Medicine Health (social science) Epidemiology Sakha Circumpolar Health International Journal of Circumpolar Health Sakha Republic Yakut Siberia
Online Access:	http://dx.doi.org/10.1080/22423982.2019.1630219 https://tandfonline.com/doi/pdf/10.1080/22423982.2019.1630219 https://www.tandfonline.com/doi/pdf/10.1080/22423982.2019.1630219

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spelling	crinformauk:10.1080/22423982.2019.1630219 2023-05-15T15:55:15+02:00 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. Ministry of Education and Science of the Russian Federation NEFU Russian Foundation for Basic Research Russian Foundation for Basic Research Russian Foundation for Basic Research Russian Foundation for Basic Research 2019 http://dx.doi.org/10.1080/22423982.2019.1630219 https://tandfonline.com/doi/pdf/10.1080/22423982.2019.1630219 https://www.tandfonline.com/doi/pdf/10.1080/22423982.2019.1630219 en eng Informa UK Limited http://creativecommons.org/licenses/by-nc/4.0/ CC-BY-NC International Journal of Circumpolar Health volume 78, issue 1, page 1630219 ISSN 2242-3982 Public Health, Environmental and Occupational Health General Medicine Health (social science) Epidemiology journal-article 2019 crinformauk https://doi.org/10.1080/22423982.2019.1630219 2023-02-06T13:12:59Z Article in Journal/Newspaper Circumpolar Health International Journal of Circumpolar Health Sakha Sakha Republic Yakut Siberia Informa (via Crossref) Sakha International Journal of Circumpolar Health 78 1 1630219
institution	Open Polar
collection	Informa (via Crossref)
op_collection_id	crinformauk
language	English
topic	Public Health, Environmental and Occupational Health General Medicine Health (social science) Epidemiology
spellingShingle	Public Health, Environmental and Occupational Health General Medicine Health (social science) Epidemiology 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. 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)
topic_facet	Public Health, Environmental and Occupational Health General Medicine Health (social science) Epidemiology
author2	Ministry of Education and Science of the Russian Federation NEFU Russian Foundation for Basic Research Russian Foundation for Basic Research Russian Foundation for Basic Research Russian Foundation for Basic Research
format	Article in Journal/Newspaper
author	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.
author_facet	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.
author_sort	Barashkov, Nikolay A.
title	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)
title_short	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)
title_full	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)
title_fullStr	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)
title_full_unstemmed	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)
title_sort	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)
publisher	Informa UK Limited
publishDate	2019
url	http://dx.doi.org/10.1080/22423982.2019.1630219 https://tandfonline.com/doi/pdf/10.1080/22423982.2019.1630219 https://www.tandfonline.com/doi/pdf/10.1080/22423982.2019.1630219
geographic	Sakha
geographic_facet	Sakha
genre	Circumpolar Health International Journal of Circumpolar Health Sakha Sakha Republic Yakut Siberia
genre_facet	Circumpolar Health International Journal of Circumpolar Health Sakha Sakha Republic Yakut Siberia
op_source	International Journal of Circumpolar Health volume 78, issue 1, page 1630219 ISSN 2242-3982
op_rights	http://creativecommons.org/licenses/by-nc/4.0/
op_rightsnorm	CC-BY-NC
op_doi	https://doi.org/10.1080/22423982.2019.1630219
container_title	International Journal of Circumpolar Health
container_volume	78
container_issue	1
container_start_page	1630219
_version_	1766390653743267840

A rare case of Waardenburg syndrome with unilateral hearing loss caused by nonsense variant c.772C&gt;T (p.Arg259*) in the MITF gene in Yakut patient from the Eastern Siberia (Sakha Republic, Russia)

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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)