Targeted next generation sequencing identified a novel mutation in MYO7A causing Usher syndrome type 1 in an Iranian consanguineous pedigree

In this study, we introduce a pedigree with two affected members with USH type 1 and represent a cost and time effective approach for genetic diagnosis of USH as a genetically heterogeneous disorder.

Source: International Journal of Pediatric Otorhinolaryngology - October 17, 2017 Category: ENT & OMF Authors: Daniz Kooshavar, Masoumeh Razipour, Morteza Movasat, Mohammad Keramatipour Source Type: research