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International Journal of Circumpolar Health Volume 78, 2019 - Issue 1
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Case Report

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)

Nikolay A. Barashkova Laboratory of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, Yakutsk, Russia;b Laboratory of Molecular Biology, M.K. Ammosov North-Eastern Federal University, Yakutsk, RussiaCorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0002-6984-7934View further author information
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Georgii P. Romanova Laboratory of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, Yakutsk, Russia;b Laboratory of Molecular Biology, M.K. Ammosov North-Eastern Federal University, Yakutsk, RussiaView further author information
,
Uigulaana P. Borisovab Laboratory of Molecular Biology, M.K. Ammosov North-Eastern Federal University, Yakutsk, RussiaView further author information
,
Aisen V. Solovyeva Laboratory of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, Yakutsk, Russia;b Laboratory of Molecular Biology, M.K. Ammosov North-Eastern Federal University, Yakutsk, RussiaView further author information
,
Vera G. Pshennikovaa Laboratory of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, Yakutsk, Russia;b Laboratory of Molecular Biology, M.K. Ammosov North-Eastern Federal University, Yakutsk, RussiaORCID Iconhttps://orcid.org/0000-0001-6866-9462View further author information
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Fedor M. Teryutina Laboratory of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, Yakutsk, Russia;c Department of Professional Pathology, Republican Hospital №2 - Center for Emergency Medical Aid, Yakutsk, RussiaORCID Iconhttps://orcid.org/0000-0002-8659-0886View further author information
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Alexander A. Bondard Genomics Core Facility, Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, RussiaORCID Iconhttps://orcid.org/0000-0001-9181-0487View further author information
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Igor V. Morozovd Genomics Core Facility, Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia;e Novosibirsk State University, Novosibirsk, RussiaView further author information
,
Elza K. Khusnutdinovaf Laboratory of Human Molecular Genetics, Ufa Federal Research Center of Russian Academy of Sciences, Institute of Biochemistry and Genetics, Ufa, Russia;g Department of Genetics and Fundamental Medicine, Bashkir State University, Ufa, RussiaView further author information
,
Olga L. Posukhe Novosibirsk State University, Novosibirsk, Russia;h Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, RussiaView further author information
,
Tatiana E. Burtsevai Department of Pediatrics and Child Surgery, M.K. Ammosov North-Eastern Federal University, Yakutsk, Russia;j Laboratory of monitoring the children health and medico-environmental research, Yakut Science Centre of Complex Medical Problems, Yakutsk, RussiaView further author information
,
Jon Øyvind Odlandk Department of Public Health and Nursing, Faculty on Medicine and Health Sciences, NTNU The Norwegian University of Science and Technology, Trondheim, NorwayView further author information
&
Sardana A. Fedorovaa Laboratory of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, Yakutsk, Russia;b Laboratory of Molecular Biology, M.K. Ammosov North-Eastern Federal University, Yakutsk, RussiaView further author information
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Article: 1630219 | Received 02 Apr 2019, Accepted 03 Jun 2019, Published online: 18 Jun 2019

References

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