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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Vydáno v:Front Genet
Hlavní autoři: Kovač, Jernej, Klančar, Gašper, Trebušak Podkrajšek, Katarina, Battelino, Saba
Médium: Artigo
Jazyk:Inglês
Vydáno: Frontiers Media S.A. 2017
Témata:
Genetics
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5491932/
https://ncbi.nlm.nih.gov/pubmed/28713423
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2017.00095
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