An exploratory study of predisposing genetic factors for DiGeorge/velocardiofacial syndrome

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. We applied F...

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Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Sci Rep
Päätekijät: Vergés, Laia, Vidal, Francesca, Geán, Esther, Alemany-Schmidt, Alexandra, Oliver-Bonet, Maria, Blanco, Joan
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Nature Publishing Group 2017
Aiheet:
Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC5216377/
https://ncbi.nlm.nih.gov/pubmed/28059126
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep40031
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