… analysis of long-term CI outcomes of 48 patients with GJB2 or SLC26A4 mutation compared
with 123 patients without detected … This study concluded that GJB2 and SLC26A4 mutations …

… We performed haplotype analysis and found two distinct haplotypes that were shared by
affected members of both families. One is between D3S3592 and LIPH-MS4, and the other is …

… , and vestibular dysfunction, whereas patients with Pendred syndrome have thyroid goiter in
… An mtDNA mutation (A1555G) in the 12S rRNA gene was found to be the cause of hearing …

… across multiple populations (Table 4) and found the genetic … due to genetic factors yet to be
discovered. A comparison of the … No Pendred syndrome was diagnosed in our patient cohort, …

… The different characteristics of sound waves are detected … Mutations in SLC26A4 can also
cause Pendred syndrome, … Differentiating between DFNB4 and Pendred syndrome can be …

… SLC26A4 gene encodes pendrin protein in humans, which is a 110 kDa glycosylated …
hearing and normal function of the hair cells in the inner ear. A few mutations were detected in the …

… detected 159 of 174 control mutations for an overall true-positive diagnostic rate of 91.4%.
The 15 control mutations that were missed were located at mutation … control mutations were …

… in hearing loss cases, first we assessed Connexin gene mutation if it is found. After that
we do a diagnostic hearing loss gene panel for the cases that don't have the connexin gene …

… Pendred syndrome is caused by mutations in the so-called SLC26A4 gene located on …
of Jewish origin the 167delT has been found to be common [130]. Screening for these …

… In the human, NIS mutations are associated with congenital iodide transport defect, a … the
transporter protein pendrin and possibly other unknown efflux proteins that are located on the …