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2011
- doi: 10.1038/ng.822
- issn: 1061-4036
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K. Snape et al., « Mutations in CEP57 cause mosaic variegated aneuploidy syndrome. », Serveur académique Lausannois, ID : 10.1038/ng.822
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Using exome sequencing and a variant prioritization strategy that focuses on loss-of-function variants, we identified biallelic, loss-of-function CEP57 mutations as a cause of constitutional mosaic aneuploidies. CEP57 is a centrosomal protein and is involved in nucleating and stabilizing microtubules. Our findings indicate that these and/or additional functions of CEP57 are crucial for maintaining correct chromosomal number during cell division.