Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies

Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies

Santini A,Tognon A,Richard A,Velasco G,Phan G,Marzin P,Maury F,May A,Michot C,Chirita-Emandi A,Saraiva J,Ballesta-Martinez M,Lyonnet S,Sansović I,Barakat T,Brunelle P,Ghoumid J,Le Guillou X,Le Tanno P,Willems M,Zenker M,Schanze I,Moortgat S,Isidor B,Paulet A,Yeung A,Levy J,Ruscitti F,Pias-Peleteiro L,Rio M,Courtin T,Abdallah H,Ducreux S,Laloy J,Rollier P,Guerrot A,Chatron N,Demurger F,Goldenberg A,Delanne J,Faivre L,Lecoquierre F,Nicolas G,Coussement A,Collet C,Herenger Y,Defrance M,Cormier-Daire V,Charbonnier C,de Dieuleveult M

Source :

2026 Apr 8

Pmid / DOI:

10.1186/s13073-026-01639-5