Pathogenic heterozygous TRPM7 variants and hypomagnesemia with developmental delay
Pathogenic heterozygous TRPM7 variants and hypomagnesemia with developmental delay
About this item
Full title
Author / Creator
Publisher
England: Oxford University Press
Journal title
Language
English
Formats
Publication information
Publisher
England: Oxford University Press
Subjects
More information
Scope and Contents
Contents
ABSTRACT
Background
Heterozygous variants in Transient receptor potential melastatin type 7 (TRPM7), encoding an essential and ubiquitously expressed cation channel, may cause hypomagnesemia, but current evidence is insufficient to draw definite conclusions and it is unclear whether any other phenotypes can occur.
Methods
Individuals wi...
Alternative Titles
Full title
Pathogenic heterozygous TRPM7 variants and hypomagnesemia with developmental delay
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_3088554614
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_3088554614
Other Identifiers
ISSN
2048-8505
E-ISSN
2048-8513
DOI
10.1093/ckj/sfae211
