Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype

Paolo Zanoni, Katharina Steindl, Deepanwita Sengupta, Pascal Joset, Angela Bahr, Heinrich Sticht, Mariarosaria Lang-Muritano, Conny M.A. van Ravenswaaij-Arts, Marwan Shinawi, Marisa Andrews, Tania Attie-Bitach, Isabelle Maystadt, Newell Belnap, Valerie Benoit, Geoffroy Delplancq, Bert B.A. de Vries, Sarah Grotto, Didier Lacombe, Austin Larson, Jeroen MourmansKatrin Õunap, Giulia Petrilli, Rolph Pfundt, Keri Ramsey, Lot Snijders Blok, Vassilis Tsatsaris, Antonio Vitobello, Laurence Faivre, Patricia G. Wheeler, Marijke R. Wevers, Monica Wojcik, Markus Zweier, Or Gozani, Anita Rauch

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Medicine & Life Sciences