Pedigree of a family with chromosome 10q23-q24 linked dystrophy. Benjamin R. Lin Derek J. Le Yabin Chen Qiwei Wang D. Doug Chung Ricardo F. Frausto Christopher Croasdale Richard W. Yee Fielding J. Hejtmancik Anthony J. Aldave 10.1371/journal.pone.0157418.g001 https://plos.figshare.com/articles/figure/Pedigree_of_a_family_with_chromosome_10q23-q24_linked_dystrophy_/3449744 <p>Females are represented by circles, males by squares, and individuals of unknown gender by diamonds. Affected individuals are shown with filled symbols and unaffected individuals are shown with open symbols. Individuals of unknown affected status are shown with a question mark. The arrow head indicates the proband. An asterisk (*) indicates individuals that underwent WES. A dagger (†) indicates individuals that underwent Sanger sequencing for identified candidate variants in <i>COL17A1</i> and <i>DNMBP</i>.</p> 2016-06-16 06:01:04 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