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    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)

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    Article

    Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

    The filamins are cytoplasmic proteins that regulate the structure and activity of the cytoskeleton by cross-linking actin into three-dimensional networks, linking the cell membrane to the cytoskeleton and serv...

    Deborah Krakow, Stephen P Robertson, Lily M King, Timothy Morgan… in Nature Genetics (2004)