Causal Variants of the GJB6 Gene are Associated with Hearing Loss and Skin Manifestations: A Case Report from Turkey
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...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Health
2022-09-01
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| Series: | International Journal of Dermatology and Venerology |
| Online Access: | http://journals.lww.com/10.1097/JD9.0000000000000231 |