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)

Waardenburg syndrome (WS) is an orphan genetic disease with autosomal dominant pattern of inheritance characterised by varying degrees of hearing loss accompanied by skin, hair and iris pigmentation abnormalities. Four types of WS differing in phenotypic characteristics are now described. We perform...

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Vydáno v:Int J Circumpolar Health
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: Taylor & Francis 2019
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6586136/
https://ncbi.nlm.nih.gov/pubmed/31213145
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/22423982.2019.1630219
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