Identification and Functional Analysis of a Novel NSD2 Missense Variant in a Patient With Rauch-Steindl Syndrome
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Background: Rauch-Steindl syndrome (RAUST) is a rare neurodevelopmental disorder caused by pathogenic variants in NSD2, a histone methyltransferase gene at 4p16.3. Due to phenotypic overlap with Wolf-Hirschhorn syndrome (WHS), RA... ...
