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11 p, 1.2 MB An exploratory study of predisposing genetic factors for DiGeorge/velocardiofacial syndrome / Vergés, Laia (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ; Vidal, Francesca (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ; Geán, Esther (Hospital Sant Joan de Déu (Manresa)) ; Alemany-Schmidt, Alexandra (Hospital Universitari Son Espases (Palma de Mallorca, Balears)) ; Oliver Bonet, Maria (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ; Blanco, Joan (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia)
DiGeorge/velocardiofacial syndrome (DGS/VCFS) is a disorder caused by a 22q11. 2 deletion mediated by non-allelic homologous recombination (NAHR) between low-copy repeats (LCRs). We have evaluated the role of LCR22 genomic architecture and PRDM9 variants as DGS/VCFS predisposing factors. [...]
2017 - 10.1038/srep40031
Scientific reports, Vol. 7 (2017) , art. 40031  
Detailed record - Creative Commons

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