An Elevated Birth Prevalence of Fraser Syndrome in Quebec Linked To A Founder Pathogenic Variant
Geneviève Gagnon, Justin Pelletier, Dariel Ashton‐Beaucage, Mohadese Sayahian Dekhordi, Vincent Chapdelaine, Marie‐Ange Delrue, Aspasia Karalis, Daniel Taliun, John David Rioux, Philippe M. Campeau, Claude Bhérer
The paper estimates an elevated birth prevalence of Fraser syndrome in Quebec's French-Canadian population and identifies a founder pathogenic variant.
medRxiv · Oct 30, 2025 · PreprintGenetic & Genomic Medicine