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Exome and genome sequencing to unravel the precise breakpoints of partial trisomy 6q and partial Monosomy 2q

BACKGROUND: Patients with complex phenotypes and a chromosomal translocation are particularly challenging, since several potentially pathogenic mechanisms need to be investigated. CASE PRESENTATION: Here, we combined exome and genome sequencing techniques to identify the precise breakpoints of heter...

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Detalles Bibliográficos
Autores principales:	Zhang, Shuang, Cui, Qianwei, Yang, Shangying, Zhang, Fangxia, Li, Chunxia, Wang, Xiaoguang, Lei, Bo, Sheng, Xunlun
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2023
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10664609/ https://www.ncbi.nlm.nih.gov/pubmed/37993819 http://dx.doi.org/10.1186/s12887-023-04368-5

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