A de novo SIX1 variant in a patient with a rare nonsyndromic cochleovestibular nerve abnormality, cochlear hypoplasia, and bilateral sensorineural hearing loss

A de novo SIX1 variant in a patient with a rare nonsyndromic cochleovestibular nerve abnormality, cochlear hypoplasia, and bilateral sensorineural hearing loss

Abstract Background 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. Me...

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Bibliographic Details
Main Authors: Elina Kari, Lorida Llaci, John L. Go, Marcus Naymik, James A. Knowles, Suzanne M. Leal, Sampath Rangasamy, Matthew J. Huentelman, Rick A. Friedman, Isabelle Schrauwen
Format: Article
Language:English
Published: Wiley 2019-12-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
absent cochlear nerve
cochleovestibular nerve abnormalities
genetics of absent cochlear nerve
pediatric hearing loss
Online Access:https://doi.org/10.1002/mgg3.995

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