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

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

Abstract Background Balanced structural variants are mostly described in disease with gene disruption or subtle rearrangement at breakpoints. Case presentation Here we report a patient with mild intellectual deficiency who carries a de novo balanced translocation t(3;5). Breakpoints were fully explo...

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Bibliographic Details
Main Authors: Kevin Yauy, Anouck Schneider, Bee Ling Ng, Jean-Baptiste Gaillard, Satish Sati, Christine Coubes, Constance Wells, Magali Tournaire, Thomas Guignard, Pauline Bouret, David Geneviève, Jacques Puechberty, Franck Pellestor, Vincent Gatinois
Format: Article
Language:English
Published: BMC 2019-08-01
Series:BMC Medical Genomics
Subjects:
Intellectual disability (ID)
Topologically associated domains (TAD)
MEF2C
Online Access:http://link.springer.com/article/10.1186/s12920-019-0558-8

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