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Deletions and duplications of the 22q11.2 region in spermatozoa from DiGeorge/velocardiofacial fathers
BACKGROUND: DiGeorge/velocardiofacial syndrome (DGS/VCFS) is the most common deletion syndrome in humans. Low copy repeats flanking the 22q11.2 region confer a substrate for non-allelic homologous recombination (NAHR) events leading to rearrangements. This study sought to identify DGS/VCFS fathers w...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4247602/ https://www.ncbi.nlm.nih.gov/pubmed/25435913 http://dx.doi.org/10.1186/s13039-014-0086-3 |