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A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss

While the importance of tight junctions in hearing is well established, the role of Claudin 9 (CLDN9), a tight junction protein, in human hearing and deafness has not been explored. Through whole-genome sequencing, we identified a one base pair deletion (c.86delT) in CLDN9, encoding a tight junction...

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Bibliografiske detaljer
Udgivet i:Hum Genet
Main Authors: Sineni, Claire J., Yildirim-Baylan, Muzeyyen, Guo, Shengru, Camarena, Vladimir, Wang, Gaofeng, Tokgoz-Yilmaz, Suna, Duman, Duygu, Bademci, Guney, Tekin, Mustafa
Format: Artigo
Sprog:Inglês
Udgivet: 2019
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6745279/
https://ncbi.nlm.nih.gov/pubmed/31175426
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-019-02037-1
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