Aimee D C Paulussen

Summary

Country: The Netherlands

Publications

  1. doi request reprint MLL2 mutation spectrum in 45 patients with Kabuki syndrome
    Aimee D C Paulussen
    Department of Clinical Genetics, Maastricht UMC, Maastricht, The Netherlands
    Hum Mutat 32:E2018-25. 2011

Detail Information

Publications1

  1. doi request reprint MLL2 mutation spectrum in 45 patients with Kabuki syndrome
    Aimee D C Paulussen
    Department of Clinical Genetics, Maastricht UMC, Maastricht, The Netherlands
    Hum Mutat 32:E2018-25. 2011
    ..0040) when comparing KS patients with an MLL2 mutation compared to patients without a mutation. Our data double the number of MLL2 mutations in KS reported so far and widen the spectrum of MLL2 mutations and disease mechanisms in KS...