Linkage analysis identifies an isolated strabismus locus at 14q12 overlapping with FOXG1 syndrome region
Xin Ye, Nicole M. Roslin, Andrew D. Paterson, Care4Rare Canada, Christopher J. Lyons, Victor D. Pegado, Phillip A. Richmond, Casper Shyr, Oriol Fornés, Xiaohua Han, Michelle Higginson, Colin J. Ross, Deborah Eileen Giaschi, Cheryl Y. Gregory, Millan S. Patel, Wyeth W. Wasserman
This study identifies a 4bp non-coding deletion in the FOXG1 locus at 14q12 as a candidate for isolated strabismus, showing its potential role in regulating FOXG1 expression.
Journal of Medical Genetics · Nov 30, 2020Peer-reviewedGenetic & Genomic Medicine