Truncated variants of MAGEL2 are involved in the etiologies of the Schaaf-Yang and Prader-Willi syndromes
MAGEL2 的截短变体与 Schaaf-Yang 综合征和 Prader-Willi 综合征的病因有关。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2025.09.005
Heimdörfer, David; Vorleuter, Alexander; Eschlböck, Alexander; Spathopoulou, Angeliki; Suarez-Cubero, Marta; Farhan, Hesso; Reiterer, Veronika; Spanjaard, Melanie; Schaaf, Christian P; Huber, Lukas A; Kremser, Leopold; Sarg, Bettina; Edenhofer, Frank; Geley, Stephan; de Araujo, Mariana E G; Huettenhofer, Alexander