Breakpoints and deleted genes identification of ring chromosome 18 in a Chinese girl by whole-genome low-coverage sequencing: a case report study

BACKGROUND: Ring chromosome 18 [r(18)] is formed by 18p- and 18q- partial deletion and generates a ring chromosome. Loss of critical genes on each arm of chromosome 18 may contribute to the specific phenotype, and the clinical spectrum varieties may heavily depend on the extent of the genomic deleti...

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Detalles Bibliográficos
Autores principales: Yao, Hui, Yang, Chuanchun, Huang, Xiaoli, Yang, Luhong, Zhao, Wei, Yin, Dan, Qin, Yuan, Mu, Feng, Liu, Lin, Tian, Ping, Liu, Zhisheng, Yang, Yun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4957311/
https://www.ncbi.nlm.nih.gov/pubmed/27448395
http://dx.doi.org/10.1186/s12881-016-0307-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4957311/
https://www.ncbi.nlm.nih.gov/pubmed/27448395
http://dx.doi.org/10.1186/s12881-016-0307-1

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