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Novel Pathogenic Variants Underlie Slc26A4-Related Hearing Loss In A Multiethnic Cohort
(Elsevier Ireland Ltd, 2017)
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 reported to be the second most common ...
Novel Domain-Specific Pou3F4 Mutations Are Associated With X-Linked Deafness: Examples From Different Populations
(2015)
Background Mutations in the POU3F4 gene cause X-linked deafness type 3 (DFN3), which is characterized by inner ear anomalies. Methods Three Turkish, one Ecuadorian, and one Nigerian families were included based on either ...
Ror1 Is Essential for Proper Innervation of Auditory Hair Cells and Hearing in Humans and Mice
(Natl Acad Sciences, 2016)
Hair cells of the inner ear, the mechanosensory receptors, convert sound waves into neural signals that are passed to the brain via the auditory nerve. Little is known about the molecular mechanisms that govern the development ...