Discovering the Unexpected with the Utilization of NGS in Diagnostics of Non-syndromic Hearing Loss Disorders: The Family Case of ILDR1-Dependent Hearing Loss Disorder

Discovering the Unexpected with the Utilization of NGS in Diagnostics of Non-syndromic Hearing Loss Disorders: The Family Case of ILDR1-Dependent Hearing Loss Disorder

Sensorineural hearing loss (SNHL) is a heterogeneous family of hearing disabilities with congenital (including genetic) as well as acquired etiology. Congenital SNHL of genetic etiology is further sub-divided into autosomal dominant, autosomal recessive and X-linked SNHL. More than 60 genes are invo...

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Bibliographic Details
Main Authors: Jernej Kovač, Gašper Klančar, Katarina Trebušak Podkrajšek, Saba Battelino
Format: Article
Language:English
Published: Frontiers Media S.A. 2017-06-01
Series:Frontiers in Genetics
Subjects:
ILDR1
hearing loss
cochlear implant
orphan disease
NGS analysis
Online Access:http://journal.frontiersin.org/article/10.3389/fgene.2017.00095/full

Internet

http://journal.frontiersin.org/article/10.3389/fgene.2017.00095/full

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