Condition: Deafness, Autosomal Recessive 23
rs111033260 in
PCDH15 gene and
Deafness, Autosomal Recessive 23
PMID 12711741 2003 A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome.
PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
PMID 25307757 2014 Truncating variants in the majority of the cytoplasmic domain of PCDH15 are unlikely to cause Usher syndrome 1F.
PMID 22815625 2012 Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I.
PMID 25262649 2014 Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.
PMID 24105371 2014 Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing.
PMID 28281779 2017 Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss.
PMID 14570705 2003 PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23.
PMID 18719945 2008 Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.