Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewed
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…·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.