A novel GRHL2 nonsense variant impairs auditory function via a gain-of-function mechanism in autosomal dominant hearing loss.

BACKGROUND: Hearing loss (HL) is genetically and phenotypically heterogeneous. Variants in GRHL2, which encodes the Grainyhead-like 2 transcription factor, cause autosomal dominant nonsyndromic HL (DFNA28). Only six pathogenic GRHL2 variants have bee…

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