Awamleh,Zain; Choufani,Sanaa; Wu,Wendy; Rots,Dmitrijs; Dingemans,Alexander-J-M; Khadri,Nael-Nadif; Boronat,Susana; Ibanez-Mico,Salvador; Herraiz,Laura-Cuesta; Ferrer,Irene; Carrascal,Antonio-Martinez; Perez-Jurado,Luis-A; Lain,Gemma-Aznar; Ortigoza-Escoba
(SPRINGERNATURE, 2024-03)
Pathogenic variants in KANSL1 and 17q21.31 microdeletions are causative of Koolen-de Vries syndrome (KdVS), a neurodevelopmental syndrome with characteristic facial dysmorphia. Our previous work has shown that syndromic ...