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