Missense variants affecting the actin-binding domains of PLS3 cause X-linked congenital diaphragmatic hernia and body wall defects
Florence Petit, Mauro Longoni, Julie M. Wells, Richard S. Maser, Eric L. Bogenschutz, Matthew J. Dysart, Hannah T. M. Contreras, Frédéric Frénois, Barbara R. Pober, Robin Dawn Clark, Philip F. Giampietro, Hilger H. Ropers, Hao Hu, Marı́a Loscertales, Richard Wagner, , Frances A. High
The paper identifies missense variants in PLS3 causing X-linked congenital diaphragmatic hernia and body wall defects through genetic analysis and functional studies.
The American Journal of Human Genetics · Sep 25, 2023Peer-reviewedGenetic & Genomic Medicine