Hypomagnesaemia with Varying Degrees of Extrarenal Symptoms As a Consequence of Heterozygous CNNM2 Variants
Willem Bosman,Gijs A. C. Franken,Javier de las Heras,Leire Madariaga,Tahsin Stefan Barakat,Rianne Oostenbrink,Marjon van Slegtenhorst,Ana Perdomo-Ramírez,Félix Claverie-Martín,Albertien M. van Eerde,Rosa Vargas-Poussou,Laurence Derain Dubourg, Irene González-Recio,Luis Alfonso Martínez-Cruz,Jeroen H. F. de Baaij,Joost G. J. Hoenderop SCIENTIFIC REPORTS（2024）
关键词
CNNM2,Variant characterisation,Genetic hypomagnesaemia,Intellectual disability
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