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 in a consanguineous famil...

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Veröffentlicht in:Human genetics 2019-10, Vol.138 (10), p.1071-1075
Hauptverfasser: Sineni, Claire J., Yildirim-Baylan, Muzeyyen, Guo, Shengru, Camarena, Vladimir, Wang, Gaofeng, Tokgoz-Yilmaz, Suna, Duman, Duygu, Bademci, Guney, Tekin, Mustafa
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Sprache:eng
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