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Advanced filters: Author: Andrew Swansbury Clear advanced filters

  • Nazneen Rahman and colleagues show that biallelic, loss-of-function mutations in CEP57 cause a constitutional mosaic aneuploidy syndrome. These findings show that CEP57 function is crucial for maintaining correct chromosomal number during cell division.

    • Katie Snape
    • Sandra Hanks
    • Nazneen Rahman
    Research
    Nature Genetics
    Volume: 43, P: 527-529