The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome.
Popp B, Brugger M, Poschmann S, Bartolomaeus T, Radtke M, Hentschel J, Di Donato N, Rump A, Gburek-Augustat J, Graf E, Wagner M, Sorge I, Lemke JR, Meitinger T, Abou Jamra R, Strehlow V, Brunet T.
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Clin Genet. 2023 Feb;103(2):226-230. doi: 10.1111/cge.14241. Epub 2022 Oct 20.
Clin Genet. 2023.
PMID: 36189577