Article
Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations.
Clinical genetics - 1 Sept 2014
Lee H J, Jung J, Shin J W, Song M H, Kim S H, Lee J-H, Lee K-A, Shin S, Kim U-K, Bok J, Lee K-Y, Choi J Y, Park H J
Abstract excerpt
Mutation of SLC26A4 is the most common cause of prelingual hearing loss in East Asia. Patients with SLC26A4 mutations have variable phenotypes ranging from non-syndromic hearing loss to Pendred syndrome. Here, we analyzed the correlation between genotype and various inner ear phenotypes and found a possible underlying mechanism. This study included 111 patients with bi-allelic SLC26A4 mutations who had bilateral...
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