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. 2011 Sep 25;2011:368915. doi: 10.4061/2011/368915

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Copyright © 2011 Kwanghyuk Lee et al.

This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Pedigree drawing of family 4243. Filled symbols represent individuals with ARNSHI, and clear symbols represent hearing individuals. Displayed under each individual are the SNP markers within the region of the ESRRB gene and the p.Glu340del mutation. The haplotype segregating with the ARNSHI phenotype is shown within a box. The homozygous region that is found only in ARNSHI individuals is bounded by rs917284 (chr14 : 71.8 Mb) and rs2043585 (chr14 : 79.0 Mb). The black arrow indicates the position of ESRRB gene amid the SNP marker loci.