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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4378009/
https://www.ncbi.nlm.nih.gov/pubmed/25516202
http://dx.doi.org/10.1186/1471-2164-15-1127

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4378009/
https://www.ncbi.nlm.nih.gov/pubmed/25516202
http://dx.doi.org/10.1186/1471-2164-15-1127

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