1. 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.
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2. 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).
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