… bi-allelic SLC26A4 mutations … correlation of nonsyndromic EVA with SLC26A4 alleles
encoding pendrin with residual transport activity. Here we describe the phenotypes and SLC26A4 …

… New variants were tested in 192 unrelated normal hearing controls. … However, in the present
study, no genotype–phenotype correlation was found. The results obtained from the present …

… Table 1 shows the frequencies of variants identified in Korean patients with bi-allelic SLC26A4
… We also found one novel variant, c.765+1G>A. This novel variant was predicted to cause …

… SLC26A4 genotypes can be correlated to the complexity and severity of the phenotypes, we
… In addition, we considered two variants of debatable pathogenicity, M34T and V37I, to be …

… variety of phenotypes associated with SLC26A4 variants at … establishment of genotype–phenotype
correlations. This study … variants in SLC26A4 based on their associated phenotype. …

… of the PS thyroid phenotype, most … correlation of SLC26A4 genotype with thyroid phenotype
has not emerged, suggesting that PS and non-syndromic EVA may be variant phenotypic …

… that consists of 12 variants upstream of SLC26A4, called CEVA (… regions or splice sites of
SLC26A4. This combination of an M1 … The genotype–phenotype correlation is different in East …

… dysplasia correlates with the PDS genotype, we reviewed clinical findings in all multiplex
families and those simplex families segregating for the three most common PDS allele variants …

… LP, Alper SL, Griffith AJ: Hypo-functional SLC26A4 variants associated with nonsyndromic
hearing loss and enlargement of the vestibular aqueduct: Genotype-phenotype correlation …

… , many pathogenic sequence variants in SLC26A4 have been … in the SLC26A4 gene.12,
13 Sequence variation in SLC26A4 … correlation between biallelic alterations in the SLC26A4 …