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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Detalles Bibliográficos
Autores principales: Vergés, Laia, Vidal, Francesca, Geán, Esther, Alemany-Schmidt, Alexandra, Oliver-Bonet, Maria, Blanco, Joan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5216377/
https://www.ncbi.nlm.nih.gov/pubmed/28059126
http://dx.doi.org/10.1038/srep40031

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5216377/
https://www.ncbi.nlm.nih.gov/pubmed/28059126
http://dx.doi.org/10.1038/srep40031

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