Figure 1 Pedigree of Family TR 16 (NYS 12) and electropherograms of the identified AHR mutation. Whole-exome ... Figure 1 Pedigree of Family TR 16 (NYS.

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Figure 1 Pedigree of Family TR 16 (NYS 12) and electropherograms of the identified AHR mutation. Whole-exome ... Figure 1 Pedigree of Family TR 16 (NYS 12) and electropherograms of the identified AHR mutation. Whole-exome sequencing was performed for Patient IV:6 and revealed a homozygous nonsense mutation (c.1861C>T;p.Q621*) in the AHR gene. Segregation analysis was performed with all available DNA samples (genotypes underneath; plus symbol = wild-type allele). Representative sequences are shown underneath. Het = heterozygous; Hom = homozygous; WT = wild-type. Unless provided in the caption above, the following copyright applies to the content of this slide: © The Author(s) (2019). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.comThis article is published and distributed under the terms of the Oxford University Press, Standard Journals Publication Model (https://academic.oup.com/journals/pages/open_access/funder_policies/chorus/standard_publication_model) Brain, awz098, https://doi.org/10.1093/brain/awz098 The content of this slide may be subject to copyright: please see the slide notes for details.

Figure 2 OCT through the fovea in Patients IV:5 and IV:6 Figure 2 OCT through the fovea in Patients IV:5 and IV:6. Features consistent with grade 3 foveal hypoplasia are seen. ... Figure 2 OCT through the fovea in Patients IV:5 and IV:6. Features consistent with grade 3 foveal hypoplasia are seen. These include: lack of a foveal pit (1), incursion of inner retinal layers (2), outer nuclear layer widening (3), and lack of outer segment lengthening (4). Unless provided in the caption above, the following copyright applies to the content of this slide: © The Author(s) (2019). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.comThis article is published and distributed under the terms of the Oxford University Press, Standard Journals Publication Model (https://academic.oup.com/journals/pages/open_access/funder_policies/chorus/standard_publication_model) Brain, awz098, https://doi.org/10.1093/brain/awz098 The content of this slide may be subject to copyright: please see the slide notes for details.