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  1. No Access

    Article

    Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B

    Mosaic variegated aneuploidy is a rare recessive condition characterized by growth retardation, microcephaly, childhood cancer and constitutional mosaicism for chromosomal gains and losses. In five families wi...

    Sandra Hanks, Kim Coleman, Sarah Reid, Alberto Plaja, Helen Firth… in Nature Genetics (2004)

  2. No Access

    Article

    Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth

    17q11 microdeletions that encompass NF1 cause 5%–10% of cases of neurofibromatosis type 1, and individuals with microdeletions are typically taller than individuals with intragenic NF1 mutations, suggesting that ...

    Jenny Douglas, Deirdre Cilliers, Kim Coleman, Katrina Tatton-Brown… in Nature Genetics (2007)