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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...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2022
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| Materias: | |
| 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 |