A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations
Titel:
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations
Auteur:
Palmer, Elizabeth E. Kumar, Raman Gordon, Christopher T. Shaw, Marie Hubert, Laurence Carroll, Renee Rio, Marlène Murray, Lucinda Leffler, Melanie Dudding-Byth, Tracy Oufadem, Myriam Lalani, Seema R. Lewis, Andrea M. Xia, Fan Tam, Allison Webster, Richard Brammah, Susan Filippini, Francesca Pollard, John Spies, Judy Minoche, Andre E. Cowley, Mark J. Risen, Sarah Powell-Hamilton, Nina N. Tusi, Jessica E. Immken, LaDonna Nagakura, Honey Bole-Feysot, Christine Nitschké, Patrick Garrigue, Alexandrine de Saint Basile, Geneviève Kivuva, Emma Scott, Richard H. Rendon, Augusto Munnich, Arnold Newman, William Kerr, Bronwyn Besmond, Claude Rosenfeld, Jill A. Amiel, Jeanne Field, Michael Gecz, Jozef