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Investigation of copy number variations on chromosome 21 detected by comparative genomic hybridization (CGH) microarray in patients with congenital anomalies
BACKGROUND: The clinical features of Down syndrome vary among individuals, with those most common being congenital heart disease, intellectual disability, developmental abnormity and dysmorphic features. Complex combination of Down syndrome phenotype could be produced by partially copy number variat...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2018
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6497326/ https://www.ncbi.nlm.nih.gov/pubmed/31061677 http://dx.doi.org/10.1186/s13039-018-0391-3 |