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)-Reference-Cited by-同舟云学术

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)

Published:2019-01-01 Issue:1 Volume:78 Page:1630219
ISSN:2242-3982
Container-title:International Journal of Circumpolar Health
language:en
Short-container-title:International Journal of Circumpolar Health

Author:

Barashkov Nikolay A.¹²^ORCID,Romanov Georgii P.¹²,Borisova Uigulaana P.²,Solovyev Aisen V.¹²,Pshennikova Vera G.¹²^ORCID,Teryutin Fedor M.¹³^ORCID,Bondar Alexander A.⁴^ORCID,Morozov Igor V.⁴⁵,Khusnutdinova Elza K.⁶⁷,Posukh Olga L.⁵⁸,Burtseva Tatiana E.⁹¹⁰,Odland Jon Øyvind¹¹,Fedorova Sardana A.¹²

Affiliation:

1. Laboratory of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, Yakutsk, Russia

2. Laboratory of Molecular Biology, M.K. Ammosov North-Eastern Federal University, Yakutsk, Russia

3. Department of Professional Pathology, Republican Hospital №2 - Center for Emergency Medical Aid, Yakutsk, Russia

4. Genomics Core Facility, Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia

5. Novosibirsk State University, Novosibirsk, Russia

6. Laboratory of Human Molecular Genetics, Ufa Federal Research Center of Russian Academy of Sciences, Institute of Biochemistry and Genetics, Ufa, Russia

7. Department of Genetics and Fundamental Medicine, Bashkir State University, Ufa, Russia

8. Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia

9. Department of Pediatrics and Child Surgery, M.K. Ammosov North-Eastern Federal University, Yakutsk, Russia

10. Laboratory of monitoring the children health and medico-environmental research, Yakut Science Centre of Complex Medical Problems, Yakutsk, Russia

11. Department of Public Health and Nursing, Faculty on Medicine and Health Sciences, NTNU The Norwegian University of Science and Technology, Trondheim, Norway

Funder

Ministry of Education and Science of the Russian Federation

NEFU

Russian Foundation for Basic Research

Publisher

Informa UK Limited

Subject

Public Health, Environmental and Occupational Health,General Medicine,Health (social science),Epidemiology

Link

https://tandfonline.com/doi/pdf/10.1080/22423982.2019.1630219

Reference18 articles.

1. Pigmentary Disorders in Association With Congenital Deafness

2. Waardenburg syndrome.

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