Heterozygous variants disrupting the interaction of ERF with activated ERK1/2 cause microcephaly, developmental delay, and skeletal anomalies
杂合变异体破坏了ERF与激活的ERK1/2的相互作用,导致小头畸形、发育迟缓和骨骼异常。
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-024-01721-9
Micale, Lucia; Vourlia, Aikaterini; Fusco, Carmela; Pracella, Riccardo; Karagiannis, Dimitrios-Christoforos; Nardella, Grazia; Vaccaro, Lorenzo; Leone, Maria Pia; Gramazio, Antonio; Dentici, Maria Lisa; Aiello, Chiara; Novelli, Antonio; Xenou, Lydia; Sui, Yang; Eichler, Evan E; Cacchiarelli, Davide; Mavrothalassitis, George; Castori, Marco