ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature.

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

doi:10.1038/s41431-025-01798-w

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ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature.

Shared by NobleBlocks on Mar 5, 2025 • 12:00 AM UTC

Authors:

Houdayer C

Rooney K

van der Laan L

Abstract

Rare genetic variants in ARID2 are responsible for a recently described neurodevelopmental condition called ARID2-related disorder (ARID2-RD). ARID2 belongs to PBAF, a unit of the SWI/SNF complex, which is a chromatin remodeling complex. This work aims to further delineate the phenotypic spectrum of...

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