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. 2015 Jul 1;24(4):535–541. doi: 10.1038/ejhg.2015.155

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OTX2 pathogenic variant. (a) Pedigree of Patient 2. Patient 2 is indicated with an arrow and his OTX2 genotype is listed. (b) DNA chromatograms for Patient 2 with the position of the c.651delC, p.(Thr218Hisfs*76) mutation indicated with a red arrow. (c) Schematic representation of the OTX2 protein. The positions of the OTX2 domains are indicated with different colors and numbers at the bottom of the drawing; HD (homeodomain), SGQFTP and SIWSPA sequences that are highly conserved within the OTX family and two OTX2 tail motifs that are required for the transactivation activity. The position of the mutation in Patient 2 is indicated with a red arrow. A full color version of this figure is available at the European Journal of Human Genetics journal online.