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. 2020 Oct 4;26:670–678.

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Copyright © 2020 Molecular Vision.

This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited, used for non-commercial purposes, and is not altered or transformed.

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The pedigree and ocular symptoms of the family with ARS. A: Family members and their relationships are shown. The affected individuals are labeled with filled symbols. Circle, female; square, male; small filled circle, miscarriage. “+” represents the normal allele, and “-” represents the deletion allele. B: Iris dysplasia and multiple pupils are shown for affected individuals II:1 and IV:3. C: Specular microscopy examination of affected individual II:10 (upper panel) and an age-matched control (lower panel). Significantly reduced corneal endothelial cell density is shown in both eyes of II:10.