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

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 explored by...

Descripción completa

Detalles Bibliográficos
Autores principales: Yauy, Kevin, Schneider, Anouck, Ng, Bee Ling, Gaillard, Jean-Baptiste, Sati, Satish, Coubes, Christine, Wells, Constance, Tournaire, Magali, Guignard, Thomas, Bouret, Pauline, Geneviève, David, Puechberty, Jacques, Pellestor, Franck, Gatinois, Vincent
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6679470/
https://www.ncbi.nlm.nih.gov/pubmed/31375103
http://dx.doi.org/10.1186/s12920-019-0558-8

Ejemplares similares

Ejemplares similares