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.ijpor1.2017.11.001
Publication status	Published - Jan 2018

Inner ear abnormality, X-linked recessive deafness, DFNX2, POU3F4, Yakuts, Eastern Siberia, Russia, SENSORINEURAL HEARING-LOSS, MIXED DEAFNESS, PERILYMPHATIC GUSHER, CHINESE FAMILY, INNER-EAR, MUTATIONS, IDENTIFICATION, POPULATION, PHENOTYPE, DELETION, DOMAIN, LOCUS, REGION

ID: 18649018