ARID2-Related Disorder: Further Delineation of the Clinical Phenotype of 27 Novel Individuals and Description of an Epigenetic Signature

ARID2-Related Disorder: Further Delineation of the Clinical Phenotype of 27 Novel Individuals and Description of an Epigenetic Signature

Authors: Houdayer C, Rooney K, van der Laan L, Bris C, Alders M, Bahr A, Barcia G, Battault C, Begemann A, Bonneau D, Bonnevalle A, Boughalem A, Bourges A, Bournez M, Bruel AL, Buhas D, Carallis F, Cogné B, Cormier-Daire V, Delanne J, Demaret T, Denommé-Pichon AS, Désir J, Dubourg C, Fradin M, Geneviève D, Goel H, Goldenberg A, Gripp KW, Guichet A, Guimier A, Jacquinet A, Keren B, Legoff L, Levy MA, McConkey H, Mendelsohn BA, Mignot C, Milon V, Nizon M, Oneda B, Pasquier L, Patat O, Philippe C, Procaccio V, Procopio R, Prouteau C, Rambaud T, Rauch A, Relator R, Rondeau S, Santen GWE, Schleit J, Sorlin A, Steindl K, Tedder M, Tessarech M, Mau-Them FT, Trost D, Van der Sluijs PJ, Vincent M, Whalen S, Thauvin-Robinet C, Isidor B, Sadikovic B, Vitobello A, Colin E

Citation: Eur J Hum Genet. 2025 Mar 5. doi: 10.1038/s41431-025-01798-w. Online ahead of print.

Specialties: Genetics, Neurology

Disclaimer: One or more of the authors of this publication were employed at the time by BluePrint Genetics, a subsidiary of Quest Diagnostics.