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...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4999867/
https://www.ncbi.nlm.nih.gov/pubmed/27562378
http://dx.doi.org/10.1038/srep31622

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