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. 2014 Sep 18;59(11):599–607. doi: 10.1038/jhg.2014.78

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Copyright © 2014 The Japan Society of Human Genetics

This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported License. The images or other third party material in this article are included in the article's Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-nd/3.0/

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The pedigree and typical audiograms of patients. (a) The four-generation pedigree of the Chinese family presenting prelingual HL is comprised of three branches (labeled A~C). The affected individuals could only be found in the third generation. Individuals with available DNAs in the second and the third generation were genotyped for the four pathogenic mutations. Two affected members (III-4 and III-13) from the third generation were selected for sequencing. (b) Typical audiograms of selected patients from each branch are shown. While patients in Branch A and B showed bilateral severe-to-profound hearing loss across all frequencies, patients in Branch C all showed severe hearing losses with down-sloping shaped audiograms (only III-29 is shown).