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