Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment
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DOI: 10.1038/s41431-017-0066-2
Abstract: Pathogenic variant in COCH are a known cause of DFNA9 autosomal dominant progressive hearing loss and vestibular dysfunction with adult onset. Hitherto, only dominant nonsynonymous variants and in-frame deletions with a presumed dominant negative or… read more here.
Keywords: cause; hearing impairment; coch gene; vestibular dysfunction ... See more keywords