Recessive variants of the SLC26A4 gene are an important cause of hereditary hearing
impairment. Several transgenic mice with different Slc26a4 variants have been generated …

Recessive variants of the SLC26A4 gene are globally a common cause of hearing
impairment. In the past, cell lines and transgenic mice were widely used to investigate the …

Mutations in the SLC26A4 gene are a common cause of human hereditary hearing
impairment worldwide. Previous studies have demonstrated that different SLC26A4 …

Hereditary hearing loss is challenging to diagnose because of the heterogeneity of the
causative genes. Further, some genes involved in hereditary hearing loss have yet to be …

Recessive mutations in the SLC26A4 gene are a common cause of hereditary hearing
impairment worldwide. Previous studies have demonstrated that different SLC26A4 …

Screening pathogenic variants in the SLC26A4 gene is an important part of molecular
genetic testing for hearing loss (HL) since they are one of the common causes of hereditary …

Heterozygous pathogenic variants in SLC12A2 are reported in patients with nonsyndromic
hearing loss. Recently, homozygous loss-of-function variants have been reported in two …

Mutations in the SLC26A4 gene, which encodes pendrin, cause congenital hearing loss as
a manifestation of Pendred syndrome (PS) with an iodide organification defect or …

Objectives The genetics of sensorineural hearing loss is characterized by a high degree of
heterogeneity. Despite this heterogeneity, DNA variants found within SLC26A4 have been …

Mutations of coding regions and splice sites of SLC26A4 cause Pendred syndrome and
nonsyndromic recessive hearing loss DFNB4. SLC26A4 encodes pendrin, a …