Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 v...
Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants
About this item
Full title
Author / Creator
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. and Hoenderop, Joost G. J.
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
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...
Alternative Titles
Full title
Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants
Authors, Artists and Contributors
Author / Creator
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.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_5f5146f8f8c742b290ce015d63777a81
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_5f5146f8f8c742b290ce015d63777a81
Other Identifiers
ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/s41598-024-57061-7
