Polycomb-associated and Trithorax-associated developmental conditions - phenotypic convergence and heterogeneity
Alice Smail, Reem Al‐Jawahiri, Kate Baker
The paper analyzes phenotypic similarities and differences in developmental conditions caused by rare variants in PcG and TrxG genes using data-driven methods, revealing phenotypic convergence and heterogeneity.
European Journal of Human Genetics · Jan 22, 2025Peer-reviewedGenetic & Genomic Medicine