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

Genetics in Medicine, Published online: 03 May 2021; doi:10.1038/s41436-021-01158-1Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype

Source: Genetics in Medicine - May 3, 2021 Category: Genetics & Stem Cells Authors: 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 Geoffro Source Type: research