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Autosomal recessive nonsyndromic hearing loss 66
- ... Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53. Mol Genet Genomics. 2015 Aug;290(4): ... Najmabadi H, Smith RJ. Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus. J Med Genet. 2005 ...