Appendix 2 of Li, Mol Vis 2016; 22:161-167.
To access the data, click or select the words “Appendix 2.” In this study, 1.68% (5/298) of patients with eoHM harbored variants in LOXL3, in which 0.67% (2/298) of patients carried two null variants, 0.67% (2/298) of patients carried two heterozygous missense variants, and 0.34% (1/298) of patients carried one splicing change.