A de novo SIX1 variant in a patient with a rare nonsyndromic cochleovestibular nerve abnormality, cochlear hypoplasia, and bilateral sensorineural hearing loss
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DOI: 10.1002/mgg3.995
Abstract: Childhood hearing impairment affects language and cognitive development. Profound congenital sensorineural hearing impairment can be due to an abnormal cochleovestibular nerve (CVN) and cochleovestibular malformations, however, the etiology of these conditions remains unclear. read more here.
Keywords: six1 variant; cochleovestibular nerve; novo six1; sensorineural hearing ... See more keywords