Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway
Title:
Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway
Author:
Delanne, Julian Lecat, Magaly Blackburn, Patrick R. Klee, Eric W. Stumpel, Constance T.R.M. Stegmann, Sander Stevens, Servi J.C. Nava, Caroline Heron, Delphine Keren, Boris Mahida, Sonal Naidu, Sakkubai Babovic-Vuksanovic, Dusica Herkert, Johanna C. Torring, Pernille M. Kibæk, Maria De Bie, Isabelle Pfundt, Rolph Hendriks, Yvonne M.C. Ousager, Lilian Bomme Bend, Renee Warren, Hannah Skinner, Steven A. Lyons, Michael J. Pöe, Charlotte Chevarin, Martin Jouan, Thibaud Garde, Aurore Thomas, Quentin Kuentz, Paul Tisserant, Emilie Duffourd, Yannis Philippe, Christophe Faivre, Laurence Thauvin-Robinet, Christel