Detection of copy number variants using chromosomal microarray analysis for the prenatal diagnosis of congenital heart defects with normal karyotype

BACKGROUND: With the increasing availability of chromosomal microarray analysis (CMA) for congenital heart defect (CHD), genetic testing now faces new challenges due to results with uncertain clinical impact. Studies are needed to better define the penetrance of genetic variants. The aim of the stud...

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Detalles Bibliográficos
Publicado en:J Clin Lab Anal
Main Authors: Song, Tingting, Wan, Shanning, Li, Yu, Xu, Ying, Dang, Yinghui, Zheng, Yunyun, Li, Chunyan, Zheng, Jiao, Chen, Biliang, Zhang, Jianfang
Formato: Artigo
Idioma:Inglês
Publicado: John Wiley and Sons Inc. 2018
Assuntos:
Research Articles
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6430372/
https://ncbi.nlm.nih.gov/pubmed/30047171
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jcla.22630
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