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Molecular characterization of a novel ring 6 chromosome using next generation sequencing

BACKGROUND: Karyotyping is the gold standard cytogenetic method for detection of ring chromosomes. In this study we report the molecular characterization of a novel ring 6 (r6) chromosome in a six-year-old girl with severe mental retardation, congenital heart disease and craniofacial abnormalities....

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Detalles Bibliográficos
Autores principales:	Zhang, Rui, Chen, Xuan, Li, Peiling, Lu, Xiumin, Liu, Yu, Li, Yan, Zhang, Liang, Xu, Mengnan, Cram, David S.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2016
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4839136/ https://www.ncbi.nlm.nih.gov/pubmed/27103944 http://dx.doi.org/10.1186/s13039-016-0245-9

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