A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells - 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.; et al. (European journal of human genetics : EJHG, 2024)
Keywords: Abnormalities, Multiple - genetics; Acetylation; Chromosome Deletion; Chromosomes, Human, Pair 17; CpG islands; DNA Methylation; Epigenetics; Fibroblasts; Genes, Regulator; Histones; Humans; Intellectual Disability - diagnosis; Intellectual Disability - genetics; Neurodevelopmental disorders