Associated Papers
X-linked transient antenatal Bartter syndrome related to MAGED2 gene: Enriching the phenotypic description and pathophysiologic investigation.
Buffet A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Successful antenatal treatment of MAGED2-related Bartter syndrome and review of treatment options and efficacy.
Walsh CJ et al.
Prenatal Diagnosis, 2024
A Case Report and Literature Review of a Novel Mutation in the MAGED2 Gene of a Patient With Severe Transient Polyhydramnios.
Wu X et al.
Frontiers in Pediatrics, 2021
The necdin interactome: evaluating the effects of amino acid substitutions and cell stress using proximity-dependent biotinylation (BioID) and mass spectrometry.
Sanderson MR et al.
Human Genetics, 2020
Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations.
Laghmani K et al.
The New England Journal of Medicine, 2016
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