Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss
Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss
About this item
Full title
Author / Creator
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. and Tekin, M.
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
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 variants in different SHL genes (
SOX10, MITF
...
Alternative Titles
Full title
Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss
Authors, Artists and Contributors
Author / Creator
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4999867
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4999867
Other Identifiers
ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/srep31622
