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

European Journal of Human Genetics, Published online: 29 January 2024; doi:10.1038/s41431-024-01538-6A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells

Source: European Journal of Human Genetics - January 29, 2024 Category: Genetics & Stem Cells Authors: Zain Awamleh Sanaa Choufani Wendy Wu Dmitrijs Rots Alexander J. M. Dingemans Nael Nadif Khadri Susana Boronat Salvador Iba ñez-Mico Laura Cuesta Herraiz Irene Ferrer Antonio Mart ínez Carrascal Luis A. P érez-Jurado Gemma Aznar Lain Juan Dario Ortigoza Source Type: research