Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability.
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.
Kröll-Hermi A, et al. Among authors: kircher sg.
Am J Hum Genet. 2025 Dec 4;112(12):2943-2960. doi: 10.1016/j.ajhg.2025.10.014. Epub 2025 Nov 18.
Am J Hum Genet. 2025.
PMID: 41260215
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