A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells
Koolen-de Vries综合征的新型血液DNA甲基化特征:KANSL1错义变异的分类及与成纤维细胞的比较
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-024-01538-6
Awamleh, Zain; Choufani, Sanaa; Wu, Wendy; Rots, Dmitrijs; Dingemans, Alexander J M; Nadif Kasri, Nael; Boronat, Susana; Ibañez-Mico, Salvador; Cuesta Herraiz, Laura; Ferrer, Irene; Martínez Carrascal, Antonio; Pérez-Jurado, Luis A; Aznar Lain, Gemma; Ortigoza-Escobar, Juan Dario; de Vries, Bert B A; Koolen, David A; Weksberg, Rosanna