Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability.

Site
Pubmed id
41260215
Authors

Kröll-Hermi A, Stoetzel C, Etard C, Halabelian L, Schaefer E, Scheidecker S, Kahrizi K, Payman J, Geoffroy V, Prasad M, Obringer C, Ruch L, Girard A, Zeng H, Li F, Plassard D, Keime C, Mattioli F, Feger C, Piton A, Fujita A, Matsumoto N, Castro MAA, Ae KC, Ruaud L, Levy J, Dozières B, Tabet AC, Wentzensen IM, Santiago-Sim T, Yusupov R, Tveten K, Smeland MF, Alkhunaizi E, Cowing G, Li C, Wortmann SB, Feichtinger RG, Mayr JA, Gonorazky H, Jing G, Wang X, Wang J, Bierhals T, Grinstein L, Herget T, Ruiz A, Gabau E, Kampmeier A, Kassel O, Kuechler A, Platzer K, Jamra RA, Woerner A, Idleburg M, Kircher SG, Laccone F, Golob B, Peterlin B, Čuturilo G, Tasic V, Kolvenbach CM, Hildebrandt F, Ramos LLP, Kok F, Buck CB, van de Laar IMBH, de Man SA, Taşdelen E, Sezer A, Büke A, Yavuz Z, Çomoğlu SS, Costin C, Tran Mau Them F, Lacaze E, Courtin T, Héron D, Keren B, Whalen S, Roume J, Yang Y, Hoffer MJV, van Haeringen A, Najmabadi H, Arrowsmith CH, Strähle U, Dollfus H, Muller J

DOI
10.1016/j.ajhg.2025.10.014
Journal
Am J Hum Genet
Publication Date
2025-11-20
Year
2025
N Publication Date
PI authors
Validated
Y