Gao, Christine W.; Lin, Wan Ying; Riddle, Ryan C.; Kushwaha, Priyanka; Boukas, Leandros; Björnsson, Hans Tómas; Hansen, Kasper D.; Fahrner, Jill A.
(2024-01-09)
Weaver syndrome is a Mendelian disorder of the epigenetic machinery (MDEM) caused by germline pathogenic variants in EZH2, which encodes the predominant H3K27 methyltransferase and key enzymatic component of Polycomb repressive complex 2 (PRC2). Weaver ...