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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Taylor & Francis 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6586136/
https://www.ncbi.nlm.nih.gov/pubmed/31213145
http://dx.doi.org/10.1080/22423982.2019.1630219

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6586136/
https://www.ncbi.nlm.nih.gov/pubmed/31213145
http://dx.doi.org/10.1080/22423982.2019.1630219

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