A novel pathogenic variant c.975G>A (p.Trp325*) in the POU3F4 gene in Yakut family (Eastern Siberia, Russia) with the X-linked deafness-2 (DFNX2)

Research output: Contribution to journal › Article › peer-review

Original language	English
Pages (from-to)	94-97
Number of pages	4
Journal	International Journal of Pediatric Otorhinolaryngology
Volume	104
DOIs	https://doi.org/10.1016/j.ijporl.2017.11.001
Publication status	Published - 1 Jan 2018

DFNX2, Eastern Siberia, Inner ear abnormality, POU3F4, Russia, X-linked recessive deafness, Yakuts, Ear, Inner/abnormalities, Humans, Male, Tomography, X-Ray Computed, Hearing Loss, Sensorineural/genetics, Magnetic Resonance Imaging, Hearing Loss, Conductive/genetics, Polymorphism, Restriction Fragment Length, Polymerase Chain Reaction, Siberia, Female, Child, Genetic Diseases, X-Linked/genetics, Hearing Tests, POU Domain Factors/genetics

ID: 9444255