Causal Variants of the GJB6 Gene are Associated with Hearing Loss and Skin Manifestations: A Case Report from Turkey

• Главные авторы: Neslihan Duzkale (Автор), Gamze Tas Aygar (Автор), Kemal Keseroglu (Автор), Murad Mutlu (Автор), Mehmet Birol Ugur (Автор)
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• Опубликовано: Wolters Kluwer Health, 2022-09-01T00:00:00Z.
• Предметы: article
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Introduction:. The gap junction beta 6 (GJB6) gene encodes connexin 30. This protein plays critical role in tissues and is responsible for the formation of gap junctions, which have a wide variety of physiological functions. Disease-associated variants of GJB6 cause non-syndromic hearing loss (HL) a...