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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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Detalhes bibliográficos
Publicado no:Mol Cytogenet
Main Authors: Li, Wenfu, Wang, Xianfu, Li, Shibo
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
Assuntos:
Acesso em linha: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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