The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes
检测到Chung-Jansen综合征的强表观遗传特征,该特征与Börjeson-Forssman-Lehmann综合征和White-Kernohan综合征部分重叠。
期刊:Human Genetics
影响因子:3.6
doi:10.1007/s00439-024-02679-w
Vos, Niels; Haghshenas, Sadegheh; van der Laan, Liselot; Russel, Perle K M; Rooney, Kathleen; Levy, Michael A; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Maas, Saskia M; Vissers, Lisenka E L M; de Vries, Bert B A; Pfundt, Rolph; Elting, Mariet W; van Hagen, Johanna M; Verbeek, Nienke E; Jongmans, Marjolijn C J; Lakeman, Phillis; Rumping, Lynne; Bosch, Danielle G M; Vitobello, Antonio; Thauvin-Robinet, Christel; Faivre, Laurence; Nambot, Sophie; Garde, Aurore; Willems, Marjolaine; Genevieve, David; Nicolas, Gaël; Busa, Tiffany; Toutain, Annick; Gérard, Marion; Bizaoui, Varoona; Isidor, Bertrand; Merla, Giuseppe; Accadia, Maria; Schwartz, Charles E; Ounap, Katrin; Hoffer, Mariëtte J V; Nezarati, Marjan M; van den Boogaard, Marie-José H; Tedder, Matthew L; Rogers, Curtis; Brusco, Alfredo; Ferrero, Giovanni B; Spodenkiewicz, Marta; Sidlow, Richard; Mussa, Alessandro; Trajkova, Slavica; McCann, Emma; Mroczkowski, Henry J; Jansen, Sandra; Donker-Kaat, Laura; Duijkers, Floor A M; Stuurman, Kyra E; Mannens, Marcel M A M; Alders, Mariëlle; Henneman, Peter; White, Susan M; Sadikovic, Bekim; van Haelst, Mieke M