Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing

Patient genetic heterogeneity renders it difficult to discover disease-cause genes. Whole-exome sequencing is a powerful new strategy that can be used to this end. The purpose of the present study was to identify a hitherto unknown mutation causing autosomal recessive nonsyndromic hearing loss…

Source:Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing