Focal Adhesion Kinase Variants May Contribute to Risk of Human Myelomeningocele
Lydia Youmans, C. Ravindranath Kamath, Sara Mansoorshahi, Myra Kurjee, Parkerson Laville, Ashabari Sprenger, Jeffrey A. Frost, Rachel K. Miller, Hope Northrup, Kit Sing Au
The paper identifies PTK2 variants associated with myelomeningocele risk through exome sequencing and functional assays in mice and Xenopus.
medRxiv · Jun 12, 2025 · PreprintGenetic & Genomic Medicine