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Expansion of Molecular and Clinical Aspects of EPS8L2 (DFNB106)-Associated Hearing Loss Emphasizes a Potential Therapeutic WindowNARA Subscribed
EPS8L2, encoding EPS8 signaling adaptor L2 protein, is critical for stereocilia maintenance in cochlear hair cells. Four previously published families have replicated autosomal recessive non-syndromic hearing loss (DFNB106), yet the mutational and clinical spectrum remains poorly described. This study expands the mutational and clinical spectrum of EPS8L2 -associated hearing impairment by identifying five additional individual...