Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway
Resource Type
Article
Authors
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
Source
In European Journal of Medical Genetics January 2023 66(1)
Subject
Language
ISSN
1769-7212