Lin, Benjamin R. J. Le, Derek Chen, Yabin Wang, Qiwei Chung, D. Doug F. Frausto, Ricardo Croasdale, Christopher Yee, Richard W. Hejtmancik, Fielding J. J. Aldave, Anthony Clinical features of chromosome 10q23-q24 linked dystrophy. <p>A. Affected individual V-2 (28 years old) demonstrates a clear cornea in the right eye. B. Three months later, she developed a corneal erosion (arrows). C. Affected individual V-3 (24 years old) also demonstrated clear corneas prior to the development of a corneal erosion, the location of which can be identified by the opacification of the corneal epithelium (arrows). D. Affected individual IV-1 (72 years old) demonstrates diffuse subepithelial opacification secondary to chronic recurrent corneal erosions seen with slit and diffuse illumination in the right (D and E) and left (F) eyes.</p> COL 17A;COL 17A variant segregates;dynamin binding protein;SNV;XVII;Epithelial Recurrent Erosion Dystrophy;splice donor site;gene;silico analysis;Segregation Analysis Confirms;DNA;DNMBP;dystrophy;Whole Exome Sequencing;COL 17A mutation;c .3156C variant;family members 2016-06-16
    https://plos.figshare.com/articles/figure/Clinical_features_of_chromosome_10q23-q24_linked_dystrophy_/3449771
10.1371/journal.pone.0157418.g002