Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway

Julian Delanne, Magaly Lecat, Patrick R. Blackburn, Eric W. Klee, Constance T.R.M. Stumpel, Sander Stegmann, Servi J.C. Stevens, Caroline Nava, Delphine Heron, Boris Keren, Sonal Mahida, Sakkubai Naidu, Dusica Babovic-Vuksanovic, Johanna C. Herkert, Pernille M. Torring, Maria Kibæk, Isabelle De Bie, Rolph Pfundt, Yvonne M.C. Hendriks, Lilian Bomme OusagerRenee Bend, Hannah Warren, Steven A. Skinner, Michael J. Lyons, Charlotte Pöe, Martin Chevarin, Thibaud Jouan, Aurore Garde, Quentin Thomas, Paul Kuentz, Emilie Tisserant, Yannis Duffourd, Christophe Philippe, Laurence Faivre, Christel Thauvin-Robinet

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Medicine & Life Sciences