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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...

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Publicat a:Mol Cytogenet
Autors principals: Li, Wenfu, Wang, Xianfu, Li, Shibo
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2018
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6497326/
https://ncbi.nlm.nih.gov/pubmed/31061677
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-018-0391-3
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