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Article

Polycomb-associated and Trithorax-associated developmental conditions-phenotypic convergence and heterogeneity.

European journal of human genetics : EJHG - 1 Nov 2025

Smail Alice, Al-Jawahiri Reem, Baker Kate

Abstract excerpt

Polycomb group (PcG) and Trithorax group (TrxG) complexes represent two major components of the epigenetic machinery. This study aimed to delineate phenotypic similarities and differences across developmental conditions arising from rare variants in PcG and TrxG genes, using data-driven approaches. 462 patients with a PcG or TrxG-associated condition were identified in the DECIPHER dataset. We analysed Human...

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PMID: 39843918
DOI: 10.1038/s41431-025-01784-2
PMCID: PMC12583576

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