A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations

  • Raman Kumar
  • , Christopher T Gordon
  • , Marie Shaw
  • , Laurence Hubert
  • , Renee Carroll
  • , Marlène Rio
  • , Lucinda Murray
  • , Melanie Leffler
  • , Tracy Dudding-Byth
  • , Myriam Oufadem
  • , Seema R Lalani
  • , Andrea M Lewis
  • , Fan Xia
  • , Allison Tam
  • , Richard Webster
  • , Susan Brammah
  • , Francesca Filippini
  • , Judy Spies
  • , Andre E Minoche
  • , Mark J Cowley
    • Sarah Risen, Nina N Powell-Hamilton, Jessica E Tusi, LaDonna Immken, Honey Nagakura, Christine Bole-Feysot, Patrick Nitschké, Alexandrine Garrigue, Geneviève de Saint Basile, Emma Kivuva, Augusto Rendon, Arnold Munnich, William Newman, Bronwyn Kerr, Claude Besmond, Jill A Rosenfeld, Jeanne Amiel, Jozef Gecz, DDD Study

Research output: Contribution to journal › Article › peer-review

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Biochemistry, Genetics and Molecular Biology