… is caused by biallelic mutations in the SLC26A4 gene, which … in the SLC26A4 gene have
Pendred syndrome, indicating … in the SLC26A4 gene and is thus allelic with Pendred syndrome (…

… Mutations in the SLC26A4 gene are very diverse and close to 200 sequence … Pendred
syndrome are either homozygous or compound heterozygous for mutations in the SLC26A4 gene. …

… Pendred syndrome is an autosomal recessive disorder characterized by sensorineural …
Both Pendred syndrome and ns-EVA seem to be linked to the malfunction of pendrin (SLC26A4), …

… Mutations in PDS (SLC26A4) cause both Pendred syndrome and DFNB4, two autosomal
recessive … In Pendred syndrome, thyromegaly also develops, although affected persons usually …

… as a mechanism for its silencing, in addition to the known genetic mutations that result in
dysfunctional pendrin in Pendred syndrome. Our data also show that SLC26A4 gene …

… , or zero mutations in the SLC26A4 gene. Bars illustrate CIs. (B.) Bilateral mean PTA related
to number of mutated SLC26A4 alleles in 115 Pendred syndrome/nonsyndromic enlarged …

… to Pendred syndrome. However, the recent identification of the PDS gene 4 as being
responsible for Pendred syndrome enables us to perform molecular evaluation of this syndrome. …

… anion transporter gene SLC26A4 are known to be responsible for Pendred syndrome (PS) …
with this phenotype lack mutations in the SLC26A4 coding region in one or both alleles. We …

… Mutations in the SLC26A4 gene cause Pendred's syndrome 1 (PS; MIM#274600) and DFNB4,
2 the latter … Pendred syndrome (PS) is an autosomal recessive condition characterized by …

… Mutations in GJB2 and SLC26A4 genes are one of the most … GJB2 and SLC26A4 genes
related to genetic syndromes of … compare the expression of these genes in different tissues of …