Mosaic variegated aneuploidy syndrome
Definition:
References:
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[1]. Bas de Wolf, et al. Chromosomal instability by mutations in the novel minor spliceosome component CENATAC. EMBO J. 2021 Jul 15;40(14):e106536. [Content Brief]
[2]. Katie Snape, et al. Mutations in CEP57 cause mosaic variegated aneuploidy syndrome. Nat Genet. 2011 Jun;43(6):527-9. [Content Brief]
[3]. Sandra Hanks, et al. Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B. Nat Genet. 2004 Nov;36(11):1159-61. [Content Brief]
[4]. Shawn Yost, et al. Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation. Nat Genet. 2017 Jul;49(7):1148-1151. [Content Brief]
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