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Mosaic variegated aneuploidy syndrome
- ... Musio A. CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome. Am J Med Genet A. 2014 Jan;164A( ... Douglas J, Rahman N. Mutations in CEP57 cause mosaic variegated aneuploidy syndrome. Nat Genet. 2011 Jun;43(6):527-9. ...
- ... the BUB1B gene have been found to cause mosaic variegated aneuploidy (MVA) syndrome type 1. This condition is characterized by cells ... for BUBR1 dysfunction in the human cancer predisposition syndrome mosaic variegated aneuploidy. Cancer Res. 2010 Jun 15;70(12):4891- ...
- ... TRIP13 gene mutations have been found to cause mosaic variegated aneuploidy (MVA) syndrome. This condition is typically characterized by cells with ...