The past, present, and future for constitutional ring chromosomes: A report of the international consortium for human ring chromosomes

Human ring chromosomes (RCs) are rare diseases with an estimated newborn incidence of 1/50,000 and an annual occurrence of 2,800 patients globally. Over the past 60 years, banding cytogenetics, fluorescence in situ hybridization (FISH), chromosome microarray analysis (CMA), and whole-genome sequenci...

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Detalles Bibliográficos
Autores principales: Li, Peining, Dupont, Barbara, Hu, Qiping, Crimi, Marco, Shen, Yiping, Lebedev, Igor, Liehr, Thomas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9519620/
https://www.ncbi.nlm.nih.gov/pubmed/36187226
http://dx.doi.org/10.1016/j.xhgg.2022.100139

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9519620/
https://www.ncbi.nlm.nih.gov/pubmed/36187226
http://dx.doi.org/10.1016/j.xhgg.2022.100139

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