Associated Papers
Expanding the Clinical Spectrum of NR4A2-Related Disorder: A Systematic Literature Review and Case Series.
Borden C et al.
American Journal of Medical Genetics. Part A, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing
NR4A2 as a Novel Target Gene for Developmental and Epileptic Encephalopathy: A Systematic Review of Related Disorders and Therapeutic Strategies.
Gabaldon-Albero A et al.
International Journal of Molecular Sciences, 2024
Two novel heterozygous truncating variants in NR4A2 identified in patients with neurodevelopmental disorder and brief literature review.
Song X et al.
Frontiers in Neuroscience, 2022
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.
Reijnders MRF et al.
Nature Communications, 2017
29051493 (PubMed )
Supplement: 41467_2017_933_MOESM5_ESM.xlsx › All_de_novo_mutations
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