Aberrant COL11A1 splicing causes prelingual autosomal dominant nonsyndromic hearing loss in the DFNA37 locus
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DOI: 10.1002/humu.24136
Abstract: Alpha‐chain collagen molecules encoded by genes that include COL11A1 are essential for skeletal, ocular, and auditory function. COL11A1 variants have been reported in syndromes involving these organ systems. However, a description of the complete clinical… read more here.
Keywords: dominant nonsyndromic; hearing loss; autosomal dominant; col11a1 ... See more keywords