Autosomal rezessive Schwerhörigkeit 23 wird durch Mutationen im PCDH15-Gen ausgelöst.
1. |
Ahmed ZM et al. (2003) PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23. |
2. |
Doucette L et al. (2009) Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15. |
3. |
OMIM.ORG article Omim 609533 |