Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report

Balanced structural variants are mostly described in disease with gene disruption or subtle rearrangement at breakpoints.

Source: BMC Medical Genomics - August 2, 2019 Category: Genetics & Stem Cells Authors: Kevin Yauy, Anouck Schneider, Bee Ling Ng, Jean-Baptiste Gaillard, Satish Sati, Christine Coubes, Constance Wells, Magali Tournaire, Thomas Guignard, Pauline Bouret, David Genevi ève, Jacques Puechberty, Franck Pellestor and Vincent Gatinois Tags: Case report Source Type: research