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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no: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 em: American Society for Clinical Investigation 2019
Assuntos:
Research Article
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados