Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss

The genetics of both syndromic (SHL) and non-syndromic hearing loss (NSHL) is characterized by a high degree of genetic heterogeneity. We analyzed whole exome sequencing data of 102 unrelated probands with apparently NSHL without a causative variant in known NSHL genes. We detected five causative va...

Full beskrivning

Sparad:
Bibliografiska uppgifter
I publikationen:Sci Rep
Huvudupphovsmän: Bademci, G., Cengiz, F. B., Foster II, J., Duman, D., Sennaroglu, L., Diaz-Horta, O., Atik, T., Kirazli, T., Olgun, L., Alper, H., Menendez, I., Loclar, I., Sennaroglu, G., Tokgoz-Yilmaz, S., Guo, S., Olgun, Y., Mahdieh, N., Bonyadi, M., Bozan, N., Ayral, A., Ozkinay, F., Yildirim-Baylan, M., Blanton, S. H., Tekin, M.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Nature Publishing Group 2016
Ämnen:
Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4999867/
https://ncbi.nlm.nih.gov/pubmed/27562378
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep31622
Taggar: Lägg till en tagg
Inga taggar, Lägg till första taggen!

Liknande verk