Article
Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants.
Scientific reports - 22 Mar 2024
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
Abstract excerpt
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 individuals with CNNM2 variants by phenotypic, functional and structural analysis of new as well as previously reported variants. This results in the identification of seven variants that...
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