Usher syndrome type 1F is caused by mutations of the PCDH15 gene inheritance is autosomal recessive. It characterized by hearing loss and retinitis pigmentosa.
1. |
Ahmed ZM et al. (2001) Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. |
2. |
Rebibo-Sabbah A et al. (2007) In vitro and ex vivo suppression by aminoglycosides of PCDH15 nonsense mutations underlying type 1 Usher syndrome. |
3. |
Ahmed ZM et al. (2008) Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome. |
5. |
OMIM.ORG article Omim 602083 |