Deleterious, protein-altering variants in the X-linked transcriptional coregulator ZMYM3 in 22 individuals with a neurodevelopmental delay phenotype
Susan M. Hiatt, Slavica Trajkova, Matteo Rossi Sebastiano, E. Christopher Partridge, Fatima Abidi, Ashlyn G. Anderson, Muhammad Ansar, Stylianos E. Antonarakis, Azadeh Azadi, Ruxandra Bachmann‐Gagescu, Andrea Bartuli, Caroline Bénech, Jennifer L. Berkowitz, Michael J. Betti, Alfredo Brusco, , Gregory M. Cooper
The paper identifies ZMYM3 variants in 22 individuals with neurodevelopmental delay, showing recurrent mutations, phenotypic overlap, and functional effects, supporting ZMYM3 as a novel NDD gene.
medRxiv · Sep 29, 2022 · PreprintGenetic & Genomic Medicine