Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield

BACKGROUND: Congenital heart defects (CHD), as the most common congenital anomaly, have been reported to be frequently associated with pathogenic copy number variants (CNVs). Currently, patients with CHD are routinely offered chromosomal microarray (CMA) testing, but the diagnostic yield of CMA on C...

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Veröffentlicht in:BMC Genomics
Hauptverfasser: Geng, Juan, Picker, Jonathan, Zheng, Zhaojing, Zhang, Xiaoqing, Wang, Jian, Hisama, Fuki, Brown, David W, Mullen, Mary P, Harris, David, Stoler, Joan, Seman, Ann, Miller, David T, Fu, Qihua, Roberts, Amy E, Shen, Yiping
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2014
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4378009/
https://ncbi.nlm.nih.gov/pubmed/25516202
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2164-15-1127
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