Biallelic WDR91 variants cause a neurodevelopmental disorder through impaired endosomal maturation and autophagy dysregulation
Nathalie Merillon, Magalie Barth, Alban C. Ziegler, Patrick Van Bogaert, Sophie Guéden, Estelle Colin, Agnès Guichet, Gwendal Poussereau, melissa giroudoux, Franck Geneviève, Isabelle Pellier, Coralie Mallebranche, Yves Delneste, Céline Beauvillain, Charline Miot
The paper identifies biallelic WDR91 variants causing a neurodevelopmental disorder by impairing endosomal maturation and autophagy.
medRxiv · Apr 3, 2026 · PreprintGenetic & Genomic Medicine