Autosomal recessive deafness 23
Autosomal recessive deafness 23 is caused by mutations of the PCDH15 gene.
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.[^]
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.[^]
OMIM.ORG articleOmim 609533 [^]