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De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

2011; Nature Portfolio; Volume: 43; Issue: 8 Linguagem: Inglês

10.1038/ng.868

1546-1718

Alexander Hoischen, Bregje W.M. van Bon, Benjamín Rodríguez‐Santiago, Christian Gilissen, Lisenka E.L.M. Vissers, Petra de Vries, Irene M. Janssen, Bart van Lier, Rob Hastings, Sarah Smithson, Ruth Newbury‐Ecob, Susanne Kjærgaard, Judith Goodship, Ruth McGowan, Deborah Bartholdi, Anita Rauch, Maarit Peippo, Jan M. Cobben, Dagmar Wieczorek, Gabriele Gillessen‐Kaesbach, Joris A. Veltman, Han G. Brunner, Bert B B A de Vries,

Immunodeficiency and Autoimmune Disorders