Combined examination of sequence and copy number variations in human deafness genes improves diagnosis for cases of genetic deafness

Conclusions: We studied how CNVs in known deafness genes may result in deafness. Data provided here served as a basis to explain how CNVs disrupt normal functions of deafness genes. These results may significantly expand our understanding about how various types of genetic mutations cause deafness in humans.
Source: BMC Ear, Nose and Throat Disorders - Category: ENT & OMF Authors: Source Type: research