A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells.

Z, Awamleh; S, Choufani; W, Wu; D, Rots; AJM, Dingemans; Kasri N, Nadif; S, Boronat; S, Ibañez-Mico; Herraiz L, Cuesta; I, Ferrer; Carrascal A, Martínez; LA, Pérez-Jurado; Lain G, Aznar; JD, Ortigoza-Escobar; Vries BBA, de; DA, Koolen; R, Weksberg

doi:10.1038/s41431-024-01538-6

A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells. | NobleBlocks