BubR1 allelic effects drive phenotypic heterogeneity in mosaic-variegated aneuploidy progeria syndrome

Mosaic-variegated aneuploidy (MVA) syndrome is a rare childhood disorder characterized by biallelic BUBR1, CEP57, or TRIP13 aberrations; increased chromosome missegregation; and a broad spectrum of clinical features, including various cancers, congenital defects, and progeroid pathologies. To invest...

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Detalles Bibliográficos
Publicado en:J Clin Invest
Main Authors: Sieben, Cynthia J., Jeganathan, Karthik B., Nelson, Grace G., Sturmlechner, Ines, Zhang, Cheng, van Deursen, Willemijn H., Bakker, Bjorn, Foijer, Floris, Li, Hu, Baker, Darren J., van Deursen, Jan M.
Formato: Artigo
Idioma:Inglês
Publicado: American Society for Clinical Investigation 2019
Assuntos:
Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6934189/
https://ncbi.nlm.nih.gov/pubmed/31738183
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI126863
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