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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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Detalles Bibliográficos
Autores principales:	Liu, Jing, Hu, Hao, Ma, Na, Jia, Zhengjun, Zhou, Yuchun, Hu, Jiancheng, Wang, Hua
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2016
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4960742/ https://www.ncbi.nlm.nih.gov/pubmed/27462370 http://dx.doi.org/10.1186/s13039-016-0267-3

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