A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members

This work was aimed at establishing the molecular etiology of hearing loss in a 9-year old girl with post-lingual non-syndromic mild sensorineural hearing loss with a complex family history of clinically heterogeneous deafness. (Source: International Journal of Pediatric Otorhinolaryngology)

from ORL via alkiviadis.1961 on Inoreader http://ift.tt/2znrPN1