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A de novo duplication of chromosome 9q34.13-qter in a fetus with Tetralogy of Fallot Syndrome

BACKGROUND: Partial duplications of the distal 9q have been rarely reported in literatures. The key features included characteristic facial appearance, long fingers and toes, slight psychomotor retardation, heart murmur et al. But rare severe congenital heart defects (CHD) such as TOF were reported...

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Detalhes bibliográficos
Publicado no:Mol Cytogenet
Main Authors: Liu, Jing, Hu, Hao, Ma, Na, Jia, Zhengjun, Zhou, Yuchun, Hu, Jiancheng, Wang, Hua
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4960742/
https://ncbi.nlm.nih.gov/pubmed/27462370
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-016-0267-3
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