A Rare Case of Warrdenburg 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)

Study confirm the association of pathogenic variants in the MITF gene with WS type 2 and expanded data on the variability of audiological features of the WS.

Author/Creator

Nikolay A. Barashkov

Georgii P. Romanov

Uigulaana P. Borisova

Aisen V. Solovyev

Vera G. Pshennikova ... [et al.]

Open Access

Yes

Primary Source

No

Citation

International Journal of Circumpolar Health, vol. 78, no. 1, 2019

Publication Date

2019

Subjects

Health & Well-Being » Hearing

Science & Technology » Genetics

Location

Russia

Resource Type

Articles -- Scholarly, peer reviewed

Format

Text -- PDF

Text -- HTML

Language

English

A Rare Case of Warrdenburg 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)

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