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Karayol, Remzi; Borroto, Maria Carla; Haghshenas, Sadegheh; Namasivayam, Anoja; Reilly, Jack; Levy, Michael A; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Shvedunova, Maria; Petersen, Andrea K; Magnussen, Kari; Zweier, Christiane; Vasileiou, Georgia; Reis, André; Savatt, Juliann M; Mulligan, Meghan R; Bicknell, Louise S; Poke, Gemma; Abu-El-Haija, Aya; ... (2024). MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature. American journal of human genetics, 111(7), pp. 1330-1351. Cell Press 10.1016/j.ajhg.2024.05.001
