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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)

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...

Täydet tiedot

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Bibliografiset tiedot
Julkaisussa:Int J Circumpolar Health
Päätekijät: 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.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Taylor & Francis 2019
Aiheet:
Linkit: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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