A rare case of atypical teratoid rhabdoid tumor (AT/RT) with homozygous SMARCB1 loss and one concurrent somatic heterozygous SMARCA4 variant
一例罕见的非典型畸胎瘤样横纹肌瘤（AT/RT），伴有SMARCB1纯合缺失和一处同时存在的体细胞杂合SMARCA4变异。
期刊:Acta Neuropathologica Communications
影响因子:5.7
doi:10.1186/s40478-025-02129-2
Müller, Ylvi; Bühner, Sebastian; Fincke, Victoria; Mauch-Mücke, Katrin; Riemenschneider, Markus J; Manea, Selma; Liesche-Starnecker, Friederike; Hasselblatt, Martin; Dahlum, Sonja; Boros, Matej; Siebert, Reiner; Frühwald, Michael C; Johann, Pascal
