Condition: Deafness, Autosomal Recessive 53


rs121912952 in COL11A2 gene and Deafness, Autosomal Recessive 53 PMID 25633957 2015 Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.

PMID 16033917 2005 Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus.