Article
A Missense Variant in the IKZF2 Gene Identified in a Genetically Undiagnosed Family With Hearing Loss.
American journal of medical genetics. Part A - 1 May 2025
Zhang Teng, Li Qiang, Wang Hanjun, Sun Shuping, Xu Hongen
Abstract excerpt
Hearing loss is one of the conditions characterized by a high degree of genetic heterogeneity, and whole exome sequencing (WES) serves as a key method for identifying pathogenic variants. To date, 155 genes have been reported to be associated with nonsyndromic hearing loss. Recently, a study by Velde et al. found that the IKZF2 (OMIM#606234) gene is associated with nonsyndromic hearing loss. In our cohort of...
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