Molecular characterization and evaluation of complex rearrangements in a case of ring chromosome 15

BACKGROUND: Ring chromosome 15 is a rare genetic entity. Only a few cases have been reported with characterization using molecular techniques. The clinical presentation is quite variable, as a result of differences in the breakpoints, haploinsufficiency of genes involved in deleted segment/s, level...

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Detalles Bibliográficos
Autores principales: Tewari, Stuti, Lubna, Naznin, Shah, Raju, Al-Rikabi, Ahmed B. H., Shah, Krati, Sheth, Jayesh, Sheth, Frenny
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5657133/
https://www.ncbi.nlm.nih.gov/pubmed/29090019
http://dx.doi.org/10.1186/s13039-017-0339-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5657133/
https://www.ncbi.nlm.nih.gov/pubmed/29090019
http://dx.doi.org/10.1186/s13039-017-0339-z

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