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

• 主要な著者: Neslihan Duzkale (著者), Gamze Tas Aygar (著者), Kemal Keseroglu (著者), Murad Mutlu (著者), Mehmet Birol Ugur (著者)
• フォーマット: 図書
• 出版事項: Wolters Kluwer Health, 2022-09-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

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...