Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile

This study shows that individuals with 9q34.3 duplications including EHMT1 gene present with mild non-syndromic neurodevelopmental disorders and DNA methylation changes different from Kleefstra syndrome.PMID:38384171 | DOI:10.1111/cge.14498

Source: Clinical Genetics - February 22, 2024 Category: Genetics & Stem Cells Authors: Dmitrijs Rots Kathleen Rooney Raissa Relator Jennifer Kerkhof Haley McConkey Rolph Pfundt Carlo Marcelis Marjolein H Willemsen Johanna M van Hagen Petra Zwijnenburg Marielle Alders Katrin Õunap Tiia Reimand Olga Fjodorova Siren Berland Eva Benedicte Liah Source Type: research