The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome

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Document type:: Zeitschriftenaufsatz
Author(s):: Popp, Bernt ; Brugger, Melanie ; Poschmann, Sibylle ; Bartolomaeus, Tobias ; Radtke, Maximilian ; Hentschel, Julia ; Di Donato, Nataliya ; Rump, Andreas ; Gburek-Augustat, Janina ; Graf, Elisabeth ; Wagner, Matias ; Sorge, Ina ; Lemke, Johannes R ; Meitinger, Thomas ; Abou Jamra, Rami ; Strehlow, Vincent ; Brunet, Theresa
Title:: The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome
Keywords:: SHORT REPORT ; SHORT REPORTS ; gain-of-function ; Glu1099Lys ; neurodevelopmental disorder ; NSD2 ; Rauch-Steindl syndrome ; Wolf-Hirschhorn syndrome
Journal title:: Clinical Genetics
Year:: 2022
Journal volume:: 103
Journal issue:: 2
Pages contribution:: 226-230
Fulltext / DOI:: doi:10.1111/cge.14241
Publisher:: Blackwell Publishing Ltd
E-ISSN:: 0009-9163 ; 1399-0004
Date of publication:: 20.10.2022
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