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Mosaic variegated aneuploidy syndrome
- Mosaic variegated aneuploidy (MVA) syndrome is a rare disorder in which some cells in the body have an abnormal number of chromosomes instead of the usual 46 ...
- ... 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. ...
- ... TRIP13 gene mutations have been found to cause mosaic variegated aneuploidy (MVA) syndrome. This condition is typically characterized by cells with ...