Supplemental material
International Journal of Circumpolar Health
Volume 78, 2019 - Issue 1
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]
https://orcid.org/0000-0002-6984-7934View further author information
https://orcid.org/0000-0002-6984-7934View 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, Russiahttps://orcid.org/0000-0001-6866-9462View further author information
https://orcid.org/0000-0001-6866-9462View further author information, 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, Russiahttps://orcid.org/0000-0002-8659-0886View further author information
https://orcid.org/0000-0002-8659-0886View further author information, Alexander A. Bondard Genomics Core Facility, Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russiahttps://orcid.org/0000-0001-9181-0487View further author information
https://orcid.org/0000-0001-9181-0487View further author information, , , , , & show allRelated Research Data
Worldwide distribution of Waardenburg syndrome.
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Mutation at the anophthalmic white locus in Syrian hamsters: haploinsufficiency in the Mitf gene mimics human Waardenburg syndrome type 2.
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Clinical and genetic investigation of families with type II Waardenburg syndrome.
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Public Library of Science (PLoS)
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Oxford University Press (OUP)
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