Autosomal recesive deafness type 12 is caused by mutations of the CDH23 gene and modified by mutations of the ATP2B2 gene.
1. |
Bork JM et al. (2001) Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. |
2. |
Wagatsuma M et al. (2007) Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss. |
3. |
Schwander M et al. (2009) A mouse model for nonsyndromic deafness (DFNB12) links hearing loss to defects in tip links of mechanosensory hair cells. |
4. |
Schultz JM et al. (2011) Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes. |
5. |
Chaib H et al. (1996) Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22. |
6. |
OMIM.ORG article Omim 601386 |