Truncated variants of MAGEL2 are involved in the etiologies of the Schaaf-Yang and Prader-Willi syndromes.
Heimdörfer D, Vorleuter A, Eschlböck A, Spathopoulou A, Suarez-Cubero M, Farhan H, Reiterer V, Spanjaard M, Schaaf CP, Huber LA, Kremser L, Sarg B, Edenhofer F, Geley S, de Araujo MEG, Huettenhofer A.
Heimdörfer D, et al. Among authors: de araujo meg.
Am J Hum Genet. 2024 Jun 17:S0002-9297(24)00206-4. doi: 10.1016/j.ajhg.2024.05.023. Online ahead of print.
Am J Hum Genet. 2024.
PMID: 38908375