Bosman, Willem; Franken, Gijs A.C.; de las Heras, Javier; Madariaga, Leire; Barakat, Tahsin Stefan; Oostenbrink, Rianne; van Slegtenhorst, Marjon; Perdomo-Ramírez, Ana; Claverie-Martín, Félix; van Eerde, Albertien M.; Vargas-Poussou, Rosa; Dubourg, Laurence Derain; González-Recio, Irene; Martínez-Cruz, Luis Alfonso; de Baaij, Jeroen H.F.; Hoenderop, Joost G.J.
(Nature Publishing Group, 2024-03-22)
Variants in the CNNM2 gene are causative for hypomagnesaemia, seizures and intellectual disability, although the phenotypes can be variable. This study aims to understand the genotype–phenotype relationship in affected ...